http://identifiers.org/exac.variant/17-4622531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622531
    reference: chr 17
allele count: 1
allele frequency: 8.612819320276298e-6
allele num: 116106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-47C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-47C>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-4622532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622532
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622532
    reference: chr 17
allele count: 28
allele frequency: 2.411423256454863e-4
allele num: 116114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-46C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-46C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35685
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-4622535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622535
    reference: chr 17
allele count: 3
allele frequency: 2.584023841926648e-5
allele num: 116098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-43C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-43C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-4622540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622540
    reference: chr 17
allele count: 8
allele frequency: 6.883615274742295e-5
allele num: 116218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-38C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-38C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-4622541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622541
    reference: chr 17
allele count: 1
allele frequency: 8.588556607176597e-6
allele num: 116434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-37G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-37G>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

17-4622544-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622544
    reference: chr 17
allele count: 20
allele frequency: 1.71503052754339e-4
allele num: 116616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-34C>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-34C>G
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 6.25e1
  variant carriers: 0
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: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-4622547-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622547
    reference: chr 17
allele count: 1
allele frequency: 8.572065353426254e-6
allele num: 116658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-31A>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-31A>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-4622550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622550
    reference: chr 17
allele count: 2
allele frequency: 1.713649216005484e-5
allele num: 116710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-28C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-28C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-4622551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622551
    reference: chr 17
allele count: 20612
allele frequency: 1.754989442136094e-1
allele num: 117448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-27A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-27A>G
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 4.75e1
  variant carriers: 1377
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 5.25e1
  variant carriers: 1525
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 6.25e1
  variant carriers: 1620
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.25e1
  variant carriers: 1104
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 1051
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 1325
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.25e1
  variant carriers: 631
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 9.75e1
  variant carriers: 1751
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.5e0
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 1563
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.75e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.75e1
  variant carriers: 789
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 483
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.75e1
  variant carriers: 830
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 557
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 1461
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 1192
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 45
num of homozygotes: 2159
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-4622558-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622555
    reference: chr 17
allele count: 2
allele frequency: 1.69943748619207e-5
allele num: 117686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-19_*258-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-19_*71-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-19_735-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-19_204-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-19_735-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-19_780-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-19_843-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-19_780-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-19_204-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-19_204-17delCTC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-19_204-17delCTC
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: TCTC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-4622559-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622559
    reference: chr 17
allele count: 1
allele frequency: 8.496754239880366e-6
allele num: 117692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-19C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-19C>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-4622564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622564
    reference: chr 17
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-14G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-14G>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/17-4622566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622566
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622566
    reference: chr 17
allele count: 1
allele frequency: 8.470843357164639e-6
allele num: 118052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-12C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-12C>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-4622567-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622567
    reference: chr 17
allele count: 85
allele frequency: 7.193757511129166e-4
allele num: 118158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-11C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-11C>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-4622567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622567
    reference: chr 17
allele count: 1
allele frequency: 8.463244130740195e-6
allele num: 118158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-11C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-11C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-4622570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622570
    reference: chr 17
allele count: 1
allele frequency: 8.439245868989148e-6
allele num: 118494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-8A>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-8A>C
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.843-8A>C
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-4622570-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622569
    reference: chr 17
allele count: 1
allele frequency: 8.439245868989148e-6
allele num: 118494
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-3delC
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-3delC
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.843-3delC
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-4622577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622577
    reference: chr 17
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.735-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.780-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*71-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.780-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.204-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.204-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.204-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.204-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.843-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.735-1G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*258-1G>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: c.843-1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-4622593-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622593
    reference: chr 17
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.219C>A
  hgvsp: ENST00000571428.1:c.219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.219C>A
  hgvsp: ENST00000571206.1:c.219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+9C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.795C>A
  hgvsp: ENST00000269260.2:c.795C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.750C>A
  hgvsp: ENST00000346341.2:c.750C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.219C>A
  hgvsp: ENST00000572457.1:c.219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.750C>A
  hgvsp: ENST00000381488.6:c.750C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.858C>A
  hgvsp: ENST00000412477.3:c.858C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.219C>A
  hgvsp: ENST00000574954.1:c.219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*86C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*273C>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro286Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-4622595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622595
    reference: chr 17
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.752G>A
  hgvsp: ENSP00000370898.6:p.Ser251Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.752G>A
  hgvsp: ENSP00000341895.2:p.Ser251Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.221G>A
  hgvsp: ENSP00000465296.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.221G>A
  hgvsp: ENSP00000465877.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+11G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.797G>A
  hgvsp: ENSP00000269260.2:p.Ser266Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.860G>A
  hgvsp: ENSP00000403701.3:p.Ser287Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.221G>A
  hgvsp: ENSP00000466344.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.221G>A
  hgvsp: ENSP00000460607.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser287Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-4622605-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622605
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622605
    reference: chr 17
allele count: 5
allele frequency: 4.133256179217988e-5
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.231C>A
  hgvsp: ENSP00000465877.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.762C>A
  hgvsp: ENSP00000341895.2:p.Phe254Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.231C>A
  hgvsp: ENSP00000460607.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.870C>A
  hgvsp: ENSP00000403701.3:p.Phe290Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+21C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.231C>A
  hgvsp: ENSP00000465296.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*98C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.762C>A
  hgvsp: ENSP00000370898.6:p.Phe254Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*285C>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.807C>A
  hgvsp: ENSP00000269260.2:p.Phe269Leu
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.231C>A
  hgvsp: ENSP00000466344.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe290Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

17-4622611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622611
    reference: chr 17
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.768G>A
  hgvsp: ENST00000381488.6:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.768G>A
  hgvsp: ENST00000346341.2:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.237G>A
  hgvsp: ENST00000572457.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.237G>A
  hgvsp: ENST00000571428.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+27G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.813G>A
  hgvsp: ENST00000269260.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.237G>A
  hgvsp: ENST00000571206.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.876G>A
  hgvsp: ENST00000412477.3:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.237G>A
  hgvsp: ENST00000574954.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-4622614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622614
    reference: chr 17
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.771G>A
  hgvsp: ENST00000381488.6:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.240G>A
  hgvsp: ENST00000572457.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.879G>A
  hgvsp: ENST00000412477.3:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.240G>A
  hgvsp: ENST00000571206.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.240G>A
  hgvsp: ENST00000574954.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.240G>A
  hgvsp: ENST00000571428.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.816G>A
  hgvsp: ENST00000269260.2:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+30G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*294G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.771G>A
  hgvsp: ENST00000346341.2:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val293Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-4622621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622621
    reference: chr 17
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.247A>G
  hgvsp: ENSP00000465877.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.247A>G
  hgvsp: ENSP00000460607.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.886A>G
  hgvsp: ENSP00000403701.3:p.Ile296Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.778A>G
  hgvsp: ENSP00000341895.2:p.Ile260Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.823A>G
  hgvsp: ENSP00000269260.2:p.Ile275Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.778A>G
  hgvsp: ENSP00000370898.6:p.Ile260Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.247A>G
  hgvsp: ENSP00000466344.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*301A>G
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.247A>G
  hgvsp: ENSP00000465296.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+37A>G
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile296Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-4622638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622638
    reference: chr 17
allele count: 85537
allele frequency: 7.047506838480044e-1
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.264C>T
  hgvsp: ENST00000571428.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.840C>T
  hgvsp: ENST00000269260.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.795C>T
  hgvsp: ENST00000381488.6:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.264C>T
  hgvsp: ENST00000572457.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.264C>T
  hgvsp: ENST00000571206.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.795C>T
  hgvsp: ENST00000346341.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.264C>T
  hgvsp: ENST00000574954.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.903C>T
  hgvsp: ENST00000412477.3:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+54C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*131C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*318C>T
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 472
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 6.25e1
  variant carriers: 1994
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 7.75e1
  variant carriers: 2879
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28285
  bin: 9.75e1
  variant carriers: 28251
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 884
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 9.25e1
  variant carriers: 3342
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 8.75e1
  variant carriers: 3308
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 1466
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 8.25e1
  variant carriers: 3108
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 2604
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 6.75e1
  variant carriers: 2345
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.75e1
  variant carriers: 1854
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 1141
genotype quality: GenotypeQuality
hgvs: p.Ser301Ser
num of homozygotes: 30763
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-4622645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622645
    reference: chr 17
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.271C>T
  hgvsp: ENSP00000465296.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*325C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.802C>T
  hgvsp: ENSP00000341895.2:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+61C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.271C>T
  hgvsp: ENSP00000460607.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.271C>T
  hgvsp: ENSP00000466344.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.847C>T
  hgvsp: ENSP00000269260.2:p.Arg283Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.271C>T
  hgvsp: ENSP00000465877.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.910C>T
  hgvsp: ENSP00000403701.3:p.Arg304Trp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.802C>T
  hgvsp: ENSP00000370898.6:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg304Trp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-4622646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622646
    reference: chr 17
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.911G>A
  hgvsp: ENSP00000403701.3:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.272G>A
  hgvsp: ENSP00000460607.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.272G>A
  hgvsp: ENSP00000466344.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+62G>A
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.848G>A
  hgvsp: ENSP00000269260.2:p.Arg283Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.272G>A
  hgvsp: ENSP00000465296.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.803G>A
  hgvsp: ENSP00000370898.6:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.803G>A
  hgvsp: ENSP00000341895.2:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.272G>A
  hgvsp: ENSP00000465877.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*139G>A
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg304Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-4622647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622647
    reference: chr 17
allele count: 7
allele frequency: 5.770055062811171e-5
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.912G>C
  hgvsp: ENST00000412477.3:c.912G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*140G>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.804G>C
  hgvsp: ENST00000346341.2:c.804G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.273G>C
  hgvsp: ENST00000572457.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+63G>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.273G>C
  hgvsp: ENST00000574954.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.273G>C
  hgvsp: ENST00000571428.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.273G>C
  hgvsp: ENST00000571206.1:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.849G>C
  hgvsp: ENST00000269260.2:c.849G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.804G>C
  hgvsp: ENST00000381488.6:c.804G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*327G>C
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg304Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-4622650-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4622650
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4622650
    reference: chr 17
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000370898
  ensembl transcript: ENST00000381488
  gene symbol: ARRB2
  hgvsc: ENST00000381488.6:c.807G>C
  hgvsp: ENSP00000370898.6:p.Glu269Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465296
  ensembl transcript: ENST00000572457
  gene symbol: ARRB2
  hgvsc: ENST00000572457.1:c.276G>C
  hgvsp: ENSP00000465296.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000403701
  ensembl transcript: ENST00000412477
  gene symbol: ARRB2
  hgvsc: ENST00000412477.3:c.915G>C
  hgvsp: ENSP00000403701.3:p.Glu305Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000465877
  ensembl transcript: ENST00000571428
  gene symbol: ARRB2
  hgvsc: ENST00000571428.1:c.276G>C
  hgvsp: ENSP00000465877.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466857
  ensembl transcript: ENST00000575877
  gene symbol: ARRB2
  hgvsc: ENST00000575877.1:c.786+66G>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460879
  ensembl transcript: ENST00000576235
  gene symbol: ARRB2
  hgvsc: ENST00000576235.1:c.*143G>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000341895
  ensembl transcript: ENST00000346341
  gene symbol: ARRB2
  hgvsc: ENST00000346341.2:c.807G>C
  hgvsp: ENSP00000341895.2:p.Glu269Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000460607
  ensembl transcript: ENST00000571206
  gene symbol: ARRB2
  hgvsc: ENST00000571206.1:c.276G>C
  hgvsp: ENSP00000460607.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000269260
  ensembl transcript: ENST00000269260
  gene symbol: ARRB2
  hgvsc: ENST00000269260.2:c.852G>C
  hgvsp: ENSP00000269260.2:p.Glu284Asp
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000458371
  ensembl transcript: ENST00000574502
  gene symbol: ARRB2
  hgvsc: ENST00000574502.1:c.*330G>C
  variant of: http://identifiers.org/hgnc/712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141480
  ensembl protein: ENSP00000466344
  ensembl transcript: ENST00000574954
  gene symbol: ARRB2
  hgvsc: ENST00000574954.1:c.276G>C
  hgvsp: ENSP00000466344.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu305Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-78063992-ACGCACGCAGGCACGTGCACGAAGAACAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063964
    reference: chr 17
allele count: 1
allele frequency: 7.275902211874272e-5
allele num: 13744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Thr963ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr963ArgfsTer?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: ACGCACGCAGGCACGTGCACGAAGAACAC
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-78063995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063995
    reference: chr 17
allele count: 1
allele frequency: 7.239032865209208e-5
allele num: 13814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+312C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2890C>T
  hgvsp: ENSP00000364011.3:p.His964Tyr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+312C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+312C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+312C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+312C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His964Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-78063995-CACGCAGGCACGTGCACGAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063975
    reference: chr 17
allele count: 1
allele frequency: 7.239032865209208e-5
allele num: 13814
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.His964GlnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His964GlnfsTer?
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: CACGCAGGCACGTGCACGAAG
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-78063996-A-ACGCAGGCACGTGCACGAAGAACACGGGACGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064028
    reference: chr 17
allele count: 1
allele frequency: 7.735148514851485e-5
allele num: 12928
alternate allele: ACGCAGGCACGTGCACGAAGAACACGGGACGCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Thr981ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr981ArgfsTer?
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-78063996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
allele count: 2802
allele frequency: 2.167388613861386e-1
allele num: 12928
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+313A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+313A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2891A>G
  hgvsp: ENSP00000364011.3:p.His964Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+313A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+313A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+313A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1526
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 2384
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 4
hgvs: p.His964Arg
num of homozygotes: 418
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-78063996-ACGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063993
    reference: chr 17
allele count: 1
allele frequency: 7.735148514851485e-5
allele num: 12928
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.793296089385475e-4
  allele num: 3580
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1168
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7108
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 150
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
reference allele: ACGC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-78063996-ACGCAGGCACGTGCACGAAGAACACGGGACGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063964
    reference: chr 17
allele count: 35
allele frequency: 2.70730198019802e-3
allele num: 12928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Lys970AsnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys970AsnfsTer?
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: ACGCAGGCACGTGCACGAAGAACACGGGACGCG
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-78063996-ACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063900
    reference: chr 17
allele count: 5
allele frequency: 3.867574257425743e-4
allele num: 12928
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 190
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 150
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.793296089385475e-4
  allele num: 3580
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 176
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
reference allele: ACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCG
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-78063997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063997
    reference: chr 17
allele count: 1
allele frequency: 7.587253414264036e-5
allele num: 13180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+314C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2892C>T
  hgvsp: ENST00000374877.3:c.2892C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+314C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+314C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+314C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+314C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His964His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-78063998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063998
    reference: chr 17
allele count: 112
allele frequency: 8.908685968819599e-3
allele num: 12572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+315G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+315G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+315G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2893G>A
  hgvsp: ENSP00000364011.3:p.Ala965Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+315G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+315G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 2
hgvs: p.Ala965Thr
num of homozygotes: 11
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-78063998-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063997
    reference: chr 17
allele count: 1
allele frequency: 7.954183900731785e-5
allele num: 12572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+316delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+316delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+316delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2894delC
  hgvsp: ENSP00000364011.3:p.Ala965GlufsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+316delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+316delC
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala965GlufsTer?
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: GC
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78064000-AGGCACGTGCACGAAGAACACGGGACGCGCGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063969
    reference: chr 17
allele count: 1
allele frequency: 7.652280379553107e-5
allele num: 13068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gly966ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly966ArgfsTer?
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: AGGCACGTGCACGAAGAACACGGGACGCGCGC
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78064000-AGGCACGTGCACGAAGAACACGGGACGCGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063971
    reference: chr 17
allele count: 1
allele frequency: 7.652280379553107e-5
allele num: 13068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gly966AlafsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly966AlafsTer?
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AGGCACGTGCACGAAGAACACGGGACGCGC
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-78064000-AGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063936
    reference: chr 17
allele count: 36
allele frequency: 2.754820936639119e-3
allele num: 13068
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 178
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 3.584229390681004e-3
  allele num: 558
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 172
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 1.400560224089636e-3
  allele num: 3570
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: AGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-78064001-GGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063999
    reference: chr 17
allele count: 2
allele frequency: 1.534212948757288e-4
allele num: 13036
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+319_2832+320delGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+319_2369+320delGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2897_2898delGC
  hgvsp: ENSP00000364011.3:p.Gly966AspfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+319_494+320delGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+319_476+320delGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+319_3083+320delGC
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly966AspfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: GGC
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78064004-ACGTGCACGAAGAACACGGGACGCGCGCAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063974
    reference: chr 17
allele count: 1
allele frequency: 8.030838419531e-5
allele num: 12452
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Cys968_Ala977del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys968_Ala977del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: ACGTGCACGAAGAACACGGGACGCGCGCAGG
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-78064006-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064005
    reference: chr 17
allele count: 2
allele frequency: 1.541782300339192e-4
allele num: 12972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2902delT
  hgvsp: ENSP00000364011.3:p.Cys968AlafsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+324delT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+324delT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+324delT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+324delT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+324delT
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys968AlafsTer?
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-78064007-TGCACGAAGAACACGGGACGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063987
    reference: chr 17
allele count: 2
allele frequency: 1.562744178777934e-4
allele num: 12798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Thr969AlafsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr969AlafsTer?
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: TGCACGAAGAACACGGGACGC
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-78064008-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064007
    reference: chr 17
allele count: 1
allele frequency: 8.144648965629581e-5
allele num: 12278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+326delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+326delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+326delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+326delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2904delC
  hgvsp: ENSP00000364011.3:p.Cys968Ter
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+326delC
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys968Ter
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GC
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-78064008-GCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063913
    reference: chr 17
allele count: 1
allele frequency: 8.144648965629581e-5
allele num: 12278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Cys968TrpfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys968TrpfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: GCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGT
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78064010-ACGAAGAACACGGGACGCGCGCAGGCACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063982
    reference: chr 17
allele count: 1
allele frequency: 7.656967840735069e-5
allele num: 13060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Thr969MetfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr969MetfsTer?
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: ACGAAGAACACGGGACGCGCGCAGGCACG
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-78064010-ACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063947
    reference: chr 17
allele count: 1
allele frequency: 7.656967840735069e-5
allele num: 13060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr969_His990delinsAsn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: ACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGC
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-78064011-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064010
    reference: chr 17
allele count: 1
allele frequency: 7.818608287724784e-5
allele num: 12790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+329delG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+329delG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+329delG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+329delG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2907delG
  hgvsp: ENSP00000364011.3:p.Lys970ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+329delG
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys970ArgfsTer?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-78064011-CGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064008
    reference: chr 17
allele count: 3
allele frequency: 2.345582486317436e-4
allele num: 12790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+332_2369+334delGAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+332_494+334delGAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+332_2832+334delGAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+332_476+334delGAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2910_2912delGAA
  hgvsp: ENSP00000364011.3:p.Lys970del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+332_3083+334delGAA
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys970del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CGAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

17-78064013-AAGAACACGGGACGCGCGCAGGCACGTGCACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063982
    reference: chr 17
allele count: 2
allele frequency: 1.545356204605162e-4
allele num: 12942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Asn971GlnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn971GlnfsTer?
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: AAGAACACGGGACGCGCGCAGGCACGTGCACG
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

17-78064014-A-ACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064075
    reference: chr 17
allele count: 12
allele frequency: 9.863554167351635e-4
allele num: 12166
alternate allele: ACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Lys970AsnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys970AsnfsTer?
num of homozygotes: 4
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-78064015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064015
    reference: chr 17
allele count: 7885
allele frequency: 6.809153713298791e-1
allele num: 11580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+332G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+332G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+332G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+332G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2910G>C
  hgvsp: ENSP00000364011.3:p.Lys970Asn
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+332G>C
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 3178
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 6.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 6.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 5403
  bin: 9.75e1
  variant carriers: 4763
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 50
hgvs: p.Lys970Asn
num of homozygotes: 3075
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-78064015-GAACACGGGACGCGCGCAGGCACGTGCACGAAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063983
    reference: chr 17
allele count: 3
allele frequency: 2.590673575129534e-4
allele num: 11580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gln976ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5403
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln976ArgfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: GAACACGGGACGCGCGCAGGCACGTGCACGAAC
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-78064015-GAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063951
    reference: chr 17
allele count: 1
allele frequency: 8.635578583765112e-5
allele num: 11580
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 140
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.092145949288807e-4
  allele num: 3234
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 488
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 168
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: GAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAAC
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-78064018-CACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063896
    reference: chr 17
allele count: 1
allele frequency: 8.333333333333333e-5
allele num: 12000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Thr972AsnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr972AsnfsTer?
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-78064021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064021
    reference: chr 17
allele count: 1
allele frequency: 8.454514710855597e-5
allele num: 11828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2916G>A
  hgvsp: ENST00000374877.3:c.2916G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+338G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+338G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+338G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+338G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+338G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr972Thr
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: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-78064026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064026
    reference: chr 17
allele count: 2
allele frequency: 1.682085786375105e-4
allele num: 11890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2921G>A
  hgvsp: ENSP00000364011.3:p.Arg974His
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+343G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+343G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+343G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+343G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+343G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg974His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-78064027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064027
    reference: chr 17
allele count: 5
allele frequency: 4.362240446693421e-4
allele num: 11462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+344C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+344C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+344C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+344C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+344C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2922C>T
  hgvsp: ENST00000374877.3:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg974Arg
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-78064029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064029
    reference: chr 17
allele count: 1
allele frequency: 8.607333448097779e-5
allele num: 11618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+346C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+346C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2924C>A
  hgvsp: ENSP00000364011.3:p.Ala975Glu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+346C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+346C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+346C>A
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala975Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-78064029-C-CGCGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064033
    reference: chr 17
allele count: 5
allele frequency: 4.30366672404889e-4
allele num: 11618
alternate allele: CGCGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+348_3083+349insGGGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2926_2927insGGGC
  hgvsp: ENSP00000364011.3:p.Gln976ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+348_2832+349insGGGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+348_2369+349insGGGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+348_476+349insGGGC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+348_494+349insGGGC
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln976ArgfsTer?
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-78064029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064029
    reference: chr 17
allele count: 2
allele frequency: 1.721466689619556e-4
allele num: 11618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+346C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+346C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+346C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2924C>T
  hgvsp: ENSP00000364011.3:p.Ala975Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+346C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+346C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala975Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-78064032-A-ACGTGCACGAACAACATGGGACGCGCGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064060
    reference: chr 17
allele count: 5
allele frequency: 4.362240446693421e-4
allele num: 11462
alternate allele: ACGTGCACGAACAACATGGGACGCGCGCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gln976HisfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln976HisfsTer?
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-78064032-A-AGGCACGTGCACGAACAACACGGGACGCGCGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064064
    reference: chr 17
allele count: 2
allele frequency: 1.744896178677369e-4
allele num: 11462
alternate allele: AGGCACGTGCACGAACAACACGGGACGCGCGCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Arg1014ThrfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1014ThrfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-78064032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064032
    reference: chr 17
allele count: 151
allele frequency: 1.317396614901413e-2
allele num: 11462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+349A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+349A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+349A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+349A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2927A>G
  hgvsp: ENSP00000364011.3:p.Gln976Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+349A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln976Arg
num of homozygotes: 28
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-78064032-AGGCACGTGCACGAACAACACGGGACGCGCGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064000
    reference: chr 17
allele count: 7
allele frequency: 6.107136625370791e-4
allele num: 11462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gly987ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly987ArgfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: AGGCACGTGCACGAACAACACGGGACGCGCGCG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

17-78064039-TGCACGAACAACACGGGACGCGCGCGGGCACGTGCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064003
    reference: chr 17
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Ala979_His990del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala979_His990del
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TGCACGAACAACACGGGACGCGCGCGGGCACGTGCAC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-78064042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78064042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78064042
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+359A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+359A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2937A>G
  hgvsp: ENST00000374877.3:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+359A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+359A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+359A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala979Ala
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 728
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 996
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35672
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 2.497021e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.829e0

QD
type: SiteQuality
SIO_000300: 4.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.910985138654818e-4
allele num: 65270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12898
num of homozygotes: 0

European (Finnish)
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allele count: 9
allele frequency: 1.361161524500907e-3
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.641e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.117e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.498278e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 2842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064194882794546e-5
allele num: 65270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.501103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.347e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

FS
type: SiteQuality
SIO_000300: 9.632999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.224852252197079e-4
allele num: 65314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12944
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 2.506849e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.714e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35769
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53003457878148e-5
allele num: 65358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 2.152e0

QD
type: SiteQuality
SIO_000300: 3.052e1

DP
type: SiteQuality
SIO_000300: 2.50952e6

VQSLOD
type: SiteQuality
SIO_000300: -2.944e0

GenotypeQuality
all individuals: 2572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
all individuals: 209
bin: 4.75e1
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 560
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GenotypeQuality
all individuals: 35805
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2135
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13204
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.200602270094973e-3
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528677999266235e-5
allele num: 65416
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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 2.513911e6

FS
type: SiteQuality
SIO_000300: 1.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 848
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65440
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13214
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.823e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.517221e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055020926893349e-5
allele num: 65466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

FS
type: SiteQuality
SIO_000300: 1.3107e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.520716e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.381e1

MQRankSum
type: SiteQuality
SIO_000300: -1.565e0

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 30

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 2062
bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 577
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GenotypeQuality
all individuals: 1701
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 40

European (Finnish)
type: Population
allele count: 1178
allele frequency: 1.7821482602118e-1
allele num: 6610
num of homozygotes: 106

East Asian
type: Population
allele count: 3
allele frequency: 3.476245654692932e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 1104
allele frequency: 9.566724436741768e-2
allele num: 11540
num of homozygotes: 61

South Asian
type: Population
allele count: 2192
allele frequency: 1.595806639487478e-1
allele num: 13736
num of homozygotes: 174

African
type: Population
allele count: 843
allele frequency: 8.13863680247152e-2
allele num: 10358
num of homozygotes: 41

European (Non-Finnish)
type: Population
allele count: 15152
allele frequency: 2.306240487062405e-1
allele num: 65700
num of homozygotes: 1764

Other
type: Population
allele count: 140
allele frequency: 1.601830663615561e-1
allele num: 874
num of homozygotes: 13

QD
type: SiteQuality
SIO_000300: 1.53e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.89643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.14e-2

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92975685063682e-4
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 2.815389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.687e1

MQ
type: SiteQuality
SIO_000300: 5.572e1

FS
type: SiteQuality
SIO_000300: 2.254e0

MQRankSum
type: SiteQuality
SIO_000300: -1.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.937e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

DP
type: SiteQuality
SIO_000300: 2.816135e6

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 4857
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 14062
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.820296e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.862e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.092e1

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.071e1

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

DP
type: SiteQuality
SIO_000300: 2.822193e6

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 84

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034625072072346e-5
allele num: 65906
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.522160664819945e-4
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 71
allele frequency: 6.845352873119938e-3
allele num: 10372
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.045230379033395e-5
allele num: 14194
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

FS
type: SiteQuality
SIO_000300: 1.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

DP
type: SiteQuality
SIO_000300: 2.824677e6

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

BaseQRankSum
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MQ
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SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.992e0

QD
type: SiteQuality
SIO_000300: 1.268e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 2.824677e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 38402
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

MQ
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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SIO_000300: 2.6e-3

BaseQRankSum
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SIO_000300: 9.3e-1

MQRankSum
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SIO_000300: 3.74e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.263264274886306e-4
allele num: 15832
num of homozygotes: 0

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

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

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

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

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

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

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

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

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

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

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

Other
type: Population
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
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allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 2.462750892747198e-4
allele num: 16242
num of homozygotes: 0

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

European (Non-Finnish)
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66642
num of homozygotes: 0

Other
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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num of homozygotes: 0

East Asian
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African
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South Asian
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Other
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Latino
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.878e1

FS
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

QD
type: SiteQuality
SIO_000300: 1.197e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

DP
type: SiteQuality
SIO_000300: 2.872128e6

GenotypeDepth
all individuals: 1539
bin: 3.75e1
variant carriers: 646

GenotypeQuality
all individuals: 1682
bin: 6.25e1
variant carriers: 30

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 17

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 90

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 53

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 34

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 120

GenotypeQuality
all individuals: 653
bin: 6.75e1
variant carriers: 41

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 48

GenotypeQuality
all individuals: 56218
bin: 9.75e1
variant carriers: 54304

Other
type: Population
allele count: 652
allele frequency: 7.180616740088106e-1
allele num: 908
num of homozygotes: 241

East Asian
type: Population
allele count: 7002
allele frequency: 8.100416473854697e-1
allele num: 8644
num of homozygotes: 2836

European (Non-Finnish)
type: Population
allele count: 46116
allele frequency: 6.910834707028323e-1
allele num: 66730
num of homozygotes: 15961

African
type: Population
allele count: 4538
allele frequency: 4.363461538461538e-1
allele num: 10400
num of homozygotes: 999

Latino
type: Population
allele count: 8986
allele frequency: 7.766637856525497e-1
allele num: 11570
num of homozygotes: 3500

South Asian
type: Population
allele count: 13118
allele frequency: 7.946450205960747e-1
allele num: 16508
num of homozygotes: 5245

European (Finnish)
type: Population
allele count: 5125
allele frequency: 7.751058681185723e-1
allele num: 6612
num of homozygotes: 1981

BaseQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 5.665248e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 2.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

GenotypeDepth
all individuals: 221
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16304
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19137
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 6844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 5.721e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.28e-1

DP
type: SiteQuality
SIO_000300: 2.276469e6

GenotypeDepth
all individuals: 5102
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3015
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19130
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.2056e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.981e0

QD
type: SiteQuality
SIO_000300: 1.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

DP
type: SiteQuality
SIO_000300: 2.276253e6

GenotypeDepth
all individuals: 7283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19121
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6844
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049884512703603e-4
allele num: 66674
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.759e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.275804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeDepth
all individuals: 221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16384
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4326
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.275046e6

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 1.949e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

GenotypeQuality
all individuals: 238
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.336898395721925e-4
allele num: 7480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.5545e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

DP
type: SiteQuality
SIO_000300: 6.50742e5

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.181e1

QD
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
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GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.644103648863035e-4
allele num: 3782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.38362e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

MQ
type: SiteQuality
SIO_000300: 5.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

FS
type: SiteQuality
SIO_000300: 2.3193e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.189e0

MQRankSum
type: SiteQuality
SIO_000300: -1.802e0

QD
type: SiteQuality
SIO_000300: 1.721e1

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.38362e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

MQ
type: SiteQuality
SIO_000300: 5.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.802e0

FS
type: SiteQuality
SIO_000300: 2.3193e1

VQSLOD
type: SiteQuality
SIO_000300: -1.189e0

QD
type: SiteQuality
SIO_000300: 1.721e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

GenotypeQuality
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.496e0

MQ
type: SiteQuality
SIO_000300: 5.365e1

QD
type: SiteQuality
SIO_000300: 2.48e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 6.85392e5

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.378e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
all individuals: 127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 371
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 7.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 133
allele frequency: 1.138698630136986e-1
allele num: 1168
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 959
allele frequency: 2.67877094972067e-1
allele num: 3580
num of homozygotes: 142

Latino
type: Population
allele count: 35
allele frequency: 1.988636363636364e-1
allele num: 176
num of homozygotes: 3

African
type: Population
allele count: 75
allele frequency: 1.348920863309352e-1
allele num: 556
num of homozygotes: 9

Other
type: Population
allele count: 21
allele frequency: 1.4e-1
allele num: 150
num of homozygotes: 3

South Asian
type: Population
allele count: 1561
allele frequency: 2.196117051209904e-1
allele num: 7108
num of homozygotes: 253

East Asian
type: Population
allele count: 18
allele frequency: 9.473684210526316e-2
allele num: 190
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 6.85392e5

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.378e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.496e0

FS
type: SiteQuality
SIO_000300: 1.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.365e1

QD
type: SiteQuality
SIO_000300: 2.48e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.496e0

MQ
type: SiteQuality
SIO_000300: 5.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 2.48e1

FS
type: SiteQuality
SIO_000300: 1.629e0

DP
type: SiteQuality
SIO_000300: 6.85392e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.378e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

GenotypeQuality
all individuals: 206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.513966480446927e-3
allele num: 3580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 3.235790658413056e-3
allele num: 7108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.629e0

QD
type: SiteQuality
SIO_000300: 2.48e1

MQ
type: SiteQuality
SIO_000300: 5.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.378e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 6.85392e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.568493150684931e-3
allele num: 1168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.496e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQ
type: SiteQuality
SIO_000300: 5.365e1

DP
type: SiteQuality
SIO_000300: 6.85392e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.378e-1

QD
type: SiteQuality
SIO_000300: 2.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.745744096650192e-4
allele num: 3642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.556e1

QD
type: SiteQuality
SIO_000300: 6.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

DP
type: SiteQuality
SIO_000300: 5.5225e5

MQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.708e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4699
bin: 9.75e1
variant carriers: 92

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 7.817023740590619e-3
allele num: 3454
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 1.805054151624549e-3
allele num: 554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 1.491228070175439e-2
allele num: 1140
num of homozygotes: 0

South Asian
type: Population
allele count: 65
allele frequency: 9.414831981460023e-3
allele num: 6904
num of homozygotes: 10

Latino
type: Population
allele count: 2
allele frequency: 1.149425287356322e-2
allele num: 174
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 5.54078e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.448435689455388e-4
allele num: 6904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 5.54078e5

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.402524544179523e-4
allele num: 7130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 5.74103e5

VQSLOD
type: SiteQuality
SIO_000300: -9.409e-1

FS
type: SiteQuality
SIO_000300: 1.0413e1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 270
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.801120448179272e-4
allele num: 3570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 5.74103e5

QD
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.409e-1

FS
type: SiteQuality
SIO_000300: 1.0413e1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

European (Finnish)
type: Population
allele count: 5
allele frequency: 3.943217665615142e-3
allele num: 1268
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 3.366058906030856e-3
allele num: 7130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 5.74103e5

VQSLOD
type: SiteQuality
SIO_000300: -9.409e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.812939521800281e-4
allele num: 7110
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.266e0

DP
type: SiteQuality
SIO_000300: 5.65908e5

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 1.3673e1

QD
type: SiteQuality
SIO_000300: 6.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.801e0

GenotypeQuality
all individuals: 4687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.457725947521866e-4
allele num: 6860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 5.39734e5

FS
type: SiteQuality
SIO_000300: 2.3315e1

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.814522938361948e-4
allele num: 7106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 1.1199e1

QD
type: SiteQuality
SIO_000300: 7.55e0

DP
type: SiteQuality
SIO_000300: 5.66285e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.695e0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.840909090909091e-4
allele num: 7040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 5.55319e5

VQSLOD
type: SiteQuality
SIO_000300: -1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.2411e1

MQ
type: SiteQuality
SIO_000300: 4.886e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.464128843338214e-4
allele num: 6830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.289e1

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

DP
type: SiteQuality
SIO_000300: 5.38045e5

FS
type: SiteQuality
SIO_000300: 1.5928e1

QD
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.464128843338214e-4
allele num: 6830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.289e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 5.38045e5

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

FS
type: SiteQuality
SIO_000300: 1.5928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.396648044692737e-4
allele num: 7160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.3529e1

DP
type: SiteQuality
SIO_000300: 5.65153e5

MQ
type: SiteQuality
SIO_000300: 4.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

GenotypeQuality
all individuals: 274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.396648044692737e-4
allele num: 7160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 4.875e1

FS
type: SiteQuality
SIO_000300: 1.3529e1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

QD
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 5.65153e5

GenotypeQuality
all individuals: 2394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4930
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.811594202898551e-3
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

VQSLOD
type: SiteQuality
SIO_000300: -2.523e0

FS
type: SiteQuality
SIO_000300: 1.1364e1

QD
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.166e0

MQ
type: SiteQuality
SIO_000300: 5.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 5.58869e5

GenotypeQuality
all individuals: 172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.623188405797101e-3
allele num: 552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.417233560090703e-4
allele num: 7056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 3.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.231e1

FS
type: SiteQuality
SIO_000300: 1.1364e1

DP
type: SiteQuality
SIO_000300: 5.58869e5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5034
bin: 9.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.831501831501832e-3
allele num: 546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.402524544179523e-4
allele num: 7130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

DP
type: SiteQuality
SIO_000300: 5.65382e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.033e1

FS
type: SiteQuality
SIO_000300: 9.287000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 166
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GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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African
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allele count: 10
allele frequency: 1.879699248120301e-2
allele num: 532
num of homozygotes: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.19047619047619e-2
allele num: 168
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.42409e5

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
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variant carriers: 8

GenotypeQuality
all individuals: 66
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variant carriers: 55

GenotypeQuality
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variant carriers: 17

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 20

GenotypeQuality
all individuals: 42
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 63

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 26

South Asian
type: Population
allele count: 4663
allele frequency: 7.202656780970034e-1
allele num: 6474
num of homozygotes: 1915

Latino
type: Population
allele count: 97
allele frequency: 5.773809523809523e-1
allele num: 168
num of homozygotes: 31

European (Non-Finnish)
type: Population
allele count: 2062
allele frequency: 6.376004947433519e-1
allele num: 3234
num of homozygotes: 782

African
type: Population
allele count: 307
allele frequency: 6.290983606557377e-1
allele num: 488
num of homozygotes: 97

European (Finnish)
type: Population
allele count: 587
allele frequency: 6.507760532150776e-1
allele num: 902
num of homozygotes: 196

East Asian
type: Population
allele count: 91
allele frequency: 5.229885057471264e-1
allele num: 174
num of homozygotes: 27

Other
type: Population
allele count: 78
allele frequency: 5.571428571428572e-1
allele num: 140
num of homozygotes: 27

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.204e-1

FS
type: SiteQuality
SIO_000300: 3.325e0

QD
type: SiteQuality
SIO_000300: 3.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 8.51831e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.633920296570899e-4
allele num: 6474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 8.51831e5

MQ
type: SiteQuality
SIO_000300: 5.527e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 3.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.204e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

QD
type: SiteQuality
SIO_000300: 3.104e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.527e1

DP
type: SiteQuality
SIO_000300: 8.51831e5

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.204e-1

QD
type: SiteQuality
SIO_000300: 3.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 3.325e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
all individuals: 1624
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.901140684410646e-3
allele num: 526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.157e0

QD
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.571e0

VQSLOD
type: SiteQuality
SIO_000300: -7.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

DP
type: SiteQuality
SIO_000300: 5.01353e5

MQ
type: SiteQuality
SIO_000300: 4.924e1

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.436368859523126e-4
allele num: 6962
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.671e1

MQRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

DP
type: SiteQuality
SIO_000300: 4.93669e5

FS
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.864508736751647e-4
allele num: 6982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 2.93e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 5.00195e5

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

GenotypeQuality
all individuals: 1138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.248477819657872e-4
allele num: 6898
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -6.126e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 2.103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 4.75232e5

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.045066991473812e-4
allele num: 3284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.697e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

DP
type: SiteQuality
SIO_000300: 4.87352e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.874015748031496e-3
allele num: 508
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.813953488372093e-3
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.697e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

DP
type: SiteQuality
SIO_000300: 4.87352e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.884338044418806e-4
allele num: 6934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.697e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.45e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.68e1

DP
type: SiteQuality
SIO_000300: 4.87352e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 5.952380952380952e-3
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.874015748031496e-3
allele num: 508
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

MQ
type: SiteQuality
SIO_000300: 5.815e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 6.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.051e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.732e-1

DP
type: SiteQuality
SIO_000300: 4.89183e5

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.063725490196078e-4
allele num: 3264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 4.89183e5

VQSLOD
type: SiteQuality
SIO_000300: -9.732e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

FS
type: SiteQuality
SIO_000300: 6.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.051e-1

MQ
type: SiteQuality
SIO_000300: 5.815e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 120

GenotypeQuality
all individuals: 1082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 4
allele frequency: 3.076923076923077e-2
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 107
allele frequency: 1.555684792090724e-2
allele num: 6878
num of homozygotes: 25

African
type: Population
allele count: 25
allele frequency: 4.921259842519685e-2
allele num: 508
num of homozygotes: 1

Latino
type: Population
allele count: 9
allele frequency: 5.357142857142857e-2
allele num: 168
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.531862745098039e-3
allele num: 3264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: -9.732e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 6.085e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.051e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 4.89183e5

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.063725490196078e-4
allele num: 3264
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.269555103227683e-4
allele num: 6878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.692307692307693e-3
allele num: 130
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.051e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

VQSLOD
type: SiteQuality
SIO_000300: -9.732e-1

FS
type: SiteQuality
SIO_000300: 6.085e0

DP
type: SiteQuality
SIO_000300: 4.89183e5

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.409244644870349e-4
allele num: 7096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 2.786e0

MQ
type: SiteQuality
SIO_000300: 4.331e1

QD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 4.76981e5

VQSLOD
type: SiteQuality
SIO_000300: -1.03e0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0