17-4871986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4871986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4871986
    reference: chr 17
allele count: 1
allele frequency: 9.529799683610651e-6
allele num: 104934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*65T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.343A>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.*15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*65T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3234T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*65T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*65T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.470T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*65T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.304T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32785
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

17-4871990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4871990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4871990
    reference: chr 17
allele count: 1
allele frequency: 9.250864955873374e-6
allele num: 108098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3230G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*61G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*61G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*61G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*61G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.466G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.347C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.300G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-4871998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4871998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4871998
    reference: chr 17
allele count: 1
allele frequency: 8.843922456487902e-6
allele num: 113072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*53G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*53G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.292G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3222G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*53G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.*3G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*53G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*53G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.458G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.355C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-4872001-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872001
    reference: chr 17
allele count: 1
allele frequency: 8.726460373143445e-6
allele num: 114594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3726A>C
  hgvsp: ENSP00000412886.3:p.Ter1242TyrextTer162
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*50A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*50A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*50A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*50A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*50A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.289A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.358T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.455A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3219A>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: stop lost
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ter1242TyrextTer162
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-4872010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872010
    reference: chr 17
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3717G>C
  hgvsp: ENST00000414043.3:c.3717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3210G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*41G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*41G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*41G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.446G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*41G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*41G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.280G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.367C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1239Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-4872010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872010
    reference: chr 17
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.446G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*41G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*41G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.280G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3210G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*41G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*41G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3717G>A
  hgvsp: ENST00000414043.3:c.3717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.367C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1239Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-4872013-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872013
    reference: chr 17
allele count: 1
allele frequency: 8.4530853761623e-6
allele num: 118300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*38C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*38C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.443C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*38C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3714C>A
  hgvsp: ENST00000414043.3:c.3714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3207C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*38C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*38C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.277C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.370G>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41343
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1238Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-4872018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872018
    reference: chr 17
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*33C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3709C>T
  hgvsp: ENSP00000412886.3:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3202C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*33C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.438C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.375G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*33C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*33C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.272C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1237Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-4872018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872018
    reference: chr 17
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*33C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.272C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.375G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*33C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3709C>G
  hgvsp: ENSP00000412886.3:p.Arg1237Gly
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3202C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.438C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*33C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*33C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1237Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

17-4872020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872020
    reference: chr 17
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*31G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.270G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*31G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*31G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3707G>A
  hgvsp: ENSP00000412886.3:p.Gly1236Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3200G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*31G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.436G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.377C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41883
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1236Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-4872027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872027
    reference: chr 17
allele count: 3
allele frequency: 2.498667377398721e-5
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3700C>T
  hgvsp: ENSP00000412886.3:p.Pro1234Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.263C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3193C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.429C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.384G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1234Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-4872031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872031
    reference: chr 17
allele count: 15
allele frequency: 1.247235295095871e-4
allele num: 120266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*20A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3696A>G
  hgvsp: ENST00000414043.3:c.3696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*20A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.388T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*20A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*20A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.425A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3189A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.259A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1232Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-4872040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872040
    reference: chr 17
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.416G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.250G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3180G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*11G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3687G>T
  hgvsp: ENST00000414043.3:c.3687G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*11G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*11G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*11G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*11G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.397C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1229Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-4872040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872040
    reference: chr 17
allele count: 14
allele frequency: 1.160920112111714e-4
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.250G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.416G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.397C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3687G>A
  hgvsp: ENST00000414043.3:c.3687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3180G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1229Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

17-4872041-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872041
    reference: chr 17
allele count: 8
allele frequency: 6.629211621007972e-5
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*10C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*10C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*10C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3686C>A
  hgvsp: ENSP00000412886.3:p.Pro1229Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.398G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.249C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*10C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3179C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*10C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.415C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1229Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-4872045-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872044
    reference: chr 17
allele count: 3
allele frequency: 2.483114819229241e-5
allele num: 120816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.*5delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.*5delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.404delC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.*5delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.410delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.244delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3681delG
  hgvsp: ENSP00000412886.3:p.Trp1227CysfsTer106
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.*5delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3174delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.*5delG
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp1227CysfsTer106
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: GC
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-4872064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872064
    reference: chr 17
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3575G>A
  hgvsp: ENSP00000350910.4:p.Gly1192Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.226G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3156G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3581G>A
  hgvsp: ENSP00000370712.5:p.Gly1194Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.392G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.421C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3596G>A
  hgvsp: ENSP00000321813.7:p.Gly1199Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3611G>A
  hgvsp: ENSP00000460779.1:p.Gly1204Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3593G>A
  hgvsp: ENSP00000354828.5:p.Gly1198Glu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3663G>A
  hgvsp: ENST00000414043.3:c.3663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1194Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-4872066-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872066
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872066
    reference: chr 17
allele count: 17
allele frequency: 1.403543534617988e-4
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3573G>C
  hgvsp: ENST00000358183.4:c.3573G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3594G>C
  hgvsp: ENST00000348066.3:c.3594G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3591G>C
  hgvsp: ENST00000361571.5:c.3591G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3154G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3609G>C
  hgvsp: ENST00000572543.1:c.3609G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3661G>C
  hgvsp: ENSP00000412886.3:p.Gly1221Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3579G>C
  hgvsp: ENST00000381311.5:c.3579G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.224G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.390G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.423C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1221Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-4872077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872077
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872077
    reference: chr 17
allele count: 4
allele frequency: 3.298805832288711e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.213C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3568C>T
  hgvsp: ENSP00000370712.5:p.Leu1190Phe
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.379C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3562C>T
  hgvsp: ENSP00000350910.4:p.Leu1188Phe
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3583C>T
  hgvsp: ENSP00000321813.7:p.Leu1195Phe
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3143C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.434G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3650C>T
  hgvsp: ENSP00000412886.3:p.Ala1217Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3598C>T
  hgvsp: ENSP00000460779.1:p.Leu1200Phe
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3580C>T
  hgvsp: ENSP00000354828.5:p.Leu1194Phe
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39665
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1217Val
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: G
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-4872086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872086
    reference: chr 17
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.370C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3574C>G
  hgvsp: ENSP00000321813.7:p.Leu1192Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3641C>G
  hgvsp: ENSP00000412886.3:p.Ala1214Gly
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3553C>G
  hgvsp: ENSP00000350910.4:p.Leu1185Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.443G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3559C>G
  hgvsp: ENSP00000370712.5:p.Leu1187Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3571C>G
  hgvsp: ENSP00000354828.5:p.Leu1191Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3134C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3589C>G
  hgvsp: ENSP00000460779.1:p.Leu1197Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.204C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1214Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-4872089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872089
    reference: chr 17
allele count: 54
allele frequency: 4.450671721750597e-4
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3550G>C
  hgvsp: ENSP00000350910.4:p.Glu1184Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3568G>C
  hgvsp: ENSP00000354828.5:p.Glu1190Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3556G>C
  hgvsp: ENSP00000370712.5:p.Glu1186Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3571G>C
  hgvsp: ENSP00000321813.7:p.Glu1191Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.446C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.367G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.201G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3586G>C
  hgvsp: ENSP00000460779.1:p.Glu1196Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3131G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3638G>C
  hgvsp: ENSP00000412886.3:p.Gly1213Ala
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1213Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-4872091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872091
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3636A>G
  hgvsp: ENST00000414043.3:c.3636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.448T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3129A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3584A>G
  hgvsp: ENSP00000460779.1:p.Gln1195Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.199A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3566A>G
  hgvsp: ENSP00000354828.5:p.Gln1189Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3569A>G
  hgvsp: ENSP00000321813.7:p.Gln1190Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.365A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3554A>G
  hgvsp: ENSP00000370712.5:p.Gln1185Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3548A>G
  hgvsp: ENSP00000350910.4:p.Gln1183Arg
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln1185Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-4872093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872093
    reference: chr 17
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3127C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3564C>T
  hgvsp: ENST00000361571.5:c.3564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3567C>T
  hgvsp: ENST00000348066.3:c.3567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.363C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3634C>T
  hgvsp: ENSP00000412886.3:p.Pro1212Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.450G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3552C>T
  hgvsp: ENST00000381311.5:c.3552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3582C>T
  hgvsp: ENST00000572543.1:c.3582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3546C>T
  hgvsp: ENST00000358183.4:c.3546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.197C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1212Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-4872103-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872103
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872103
    reference: chr 17
allele count: 190
allele frequency: 1.565409395751973e-3
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3542T>G
  hgvsp: ENSP00000370712.5:p.Leu1181Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3557T>G
  hgvsp: ENSP00000321813.7:p.Leu1186Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3624T>G
  hgvsp: ENST00000414043.3:c.3624T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3536T>G
  hgvsp: ENSP00000350910.4:p.Leu1179Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.187T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3572T>G
  hgvsp: ENSP00000460779.1:p.Leu1191Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.460A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3554T>G
  hgvsp: ENSP00000354828.5:p.Leu1185Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.353T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3117T>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 39538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1181Arg
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-4872111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872111
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872111
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3564G>A
  hgvsp: ENSP00000460779.1:p.Met1188Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3549G>A
  hgvsp: ENSP00000321813.7:p.Met1183Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3534G>A
  hgvsp: ENSP00000370712.5:p.Met1178Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3528G>A
  hgvsp: ENSP00000350910.4:p.Met1176Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3616G>A
  hgvsp: ENSP00000412886.3:p.Glu1206Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.468C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.345G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.179G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3109G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3546G>A
  hgvsp: ENSP00000354828.5:p.Met1182Ile
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1206Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-4872113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872113
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3614A>G
  hgvsp: ENSP00000412886.3:p.Asp1205Gly
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3107A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.177A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3532A>G
  hgvsp: ENSP00000370712.5:p.Met1178Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3562A>G
  hgvsp: ENSP00000460779.1:p.Met1188Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3526A>G
  hgvsp: ENSP00000350910.4:p.Met1176Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.343A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3547A>G
  hgvsp: ENSP00000321813.7:p.Met1183Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.470T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3544A>G
  hgvsp: ENSP00000354828.5:p.Met1182Val
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1205Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-4872117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872117
    reference: chr 17
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262429
  ensembl transcript: ENST00000576752
  gene symbol: RP5-1050D4.3
  hgvsc: ENST00000576752.1:n.474G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-3C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-3C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 4
hgvs: c.3613-3C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-4872122-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872124
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-9_342-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-9_176-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-9_3613-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-9_3531-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-9_3525-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-9_3561-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-9_3546-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-9_*3106-8insAA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-9_3543-8insAA
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-4872123-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872123
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-9T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-9T>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-4872125-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872125
    reference: chr 17
allele count: 9
allele frequency: 7.414119779223988e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-11T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-11T>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-4872130-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872127
    reference: chr 17
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-19_*3106-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-19_3561-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-19_3531-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-19_3613-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-19_342-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-19_176-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-19_3525-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-19_3546-17delCCT
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-19_3543-17delCCT
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: TAGG
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-4872132-G-GGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872134
    reference: chr 17
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: GGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-20_342-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-20_176-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-20_3531-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-20_3613-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-20_3561-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-20_3525-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-20_3543-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-20_*3106-19dupTC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-20_3546-19dupTC
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-4872135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872135
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872135
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-21C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-4872150-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872149
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-37delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-37delC
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: CG
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-4872151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872151
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-37C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-4872155-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872155
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3531-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.176-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3543-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3525-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.342-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3613-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3546-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3561-41G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3106-41G>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

17-4872161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872161
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872161
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+41C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+41C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-4872165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872165
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+37C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+37C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-4872181-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872180
    reference: chr 17
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+20delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+20delC
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7630
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: AG
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-4872189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872189
    reference: chr 17
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+13T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+13T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

17-4872191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872191
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+11C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+11C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-4872192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872192
    reference: chr 17
allele count: 76
allele frequency: 6.261534405483785e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+10C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+10C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-4872195-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872195
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+7A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+7A>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3612+7A>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-4872195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872195
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560+7A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612+7A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3612+7A>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-4872202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872202
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3542G>A
  hgvsp: ENSP00000354828.5:p.Arg1181Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3560G>A
  hgvsp: ENSP00000460779.1:p.Arg1187Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3545G>A
  hgvsp: ENSP00000321813.7:p.Arg1182Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3524G>A
  hgvsp: ENSP00000350910.4:p.Arg1175Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.175G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3530G>A
  hgvsp: ENSP00000370712.5:p.Arg1177Lys
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.341G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3105G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3612G>A
  hgvsp: ENST00000414043.3:c.3612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1177Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-4872208-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872208
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.335G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3536G>C
  hgvsp: ENSP00000354828.5:p.Arg1179Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.169G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3518G>C
  hgvsp: ENSP00000350910.4:p.Arg1173Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3606G>C
  hgvsp: ENST00000414043.3:c.3606G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3554G>C
  hgvsp: ENSP00000460779.1:p.Arg1185Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3539G>C
  hgvsp: ENSP00000321813.7:p.Arg1180Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3524G>C
  hgvsp: ENSP00000370712.5:p.Arg1175Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3099G>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1175Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-4872217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872217
    reference: chr 17
allele count: 11
allele frequency: 9.067378868061394e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.160G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3509G>A
  hgvsp: ENSP00000350910.4:p.Arg1170Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3515G>A
  hgvsp: ENSP00000370712.5:p.Arg1172Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3530G>A
  hgvsp: ENSP00000321813.7:p.Arg1177Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3527G>A
  hgvsp: ENSP00000354828.5:p.Arg1176Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3090G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3545G>A
  hgvsp: ENSP00000460779.1:p.Arg1182Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3597G>A
  hgvsp: ENST00000414043.3:c.3597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.326G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42783
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1172Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

17-4872239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872239
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3575C>T
  hgvsp: ENSP00000412886.3:p.Pro1192Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3523C>T
  hgvsp: ENSP00000460779.1:p.Arg1175Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3493C>T
  hgvsp: ENSP00000370712.5:p.Arg1165Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.138C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.304C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3508C>T
  hgvsp: ENSP00000321813.7:p.Arg1170Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3505C>T
  hgvsp: ENSP00000354828.5:p.Arg1169Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3487C>T
  hgvsp: ENSP00000350910.4:p.Arg1163Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3068C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1192Leu
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: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-4872247-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872247
    reference: chr 17
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3485A>T
  hgvsp: ENSP00000370712.5:p.Gln1162Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.130A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3060A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.296A>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3479A>T
  hgvsp: ENSP00000350910.4:p.Gln1160Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3500A>T
  hgvsp: ENSP00000321813.7:p.Gln1167Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3497A>T
  hgvsp: ENSP00000354828.5:p.Gln1166Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3567A>T
  hgvsp: ENST00000414043.3:c.3567A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3515A>T
  hgvsp: ENSP00000460779.1:p.Gln1172Leu
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1162Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-4872250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872250
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3494A>C
  hgvsp: ENSP00000354828.5:p.Asp1165Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3497A>C
  hgvsp: ENSP00000321813.7:p.Asp1166Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3482A>C
  hgvsp: ENSP00000370712.5:p.Asp1161Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3512A>C
  hgvsp: ENSP00000460779.1:p.Asp1171Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.127A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3057A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3476A>C
  hgvsp: ENSP00000350910.4:p.Asp1159Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3564A>C
  hgvsp: ENST00000414043.3:c.3564A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.293A>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1161Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-4872251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872251
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.292G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3496G>C
  hgvsp: ENSP00000321813.7:p.Asp1166His
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.126G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3056G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3475G>C
  hgvsp: ENSP00000350910.4:p.Asp1159His
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3493G>C
  hgvsp: ENSP00000354828.5:p.Asp1165His
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3563G>C
  hgvsp: ENSP00000412886.3:p.Gly1188Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3511G>C
  hgvsp: ENSP00000460779.1:p.Asp1171His
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3481G>C
  hgvsp: ENSP00000370712.5:p.Asp1161His
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1188Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-4872256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872256
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3470A>G
  hgvsp: ENSP00000350910.4:p.Lys1157Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3051A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3558A>G
  hgvsp: ENST00000414043.3:c.3558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3491A>G
  hgvsp: ENSP00000321813.7:p.Lys1164Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3476A>G
  hgvsp: ENSP00000370712.5:p.Lys1159Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3506A>G
  hgvsp: ENSP00000460779.1:p.Lys1169Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3488A>G
  hgvsp: ENSP00000354828.5:p.Lys1163Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.121A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.287A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42789
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1159Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

17-4872268-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872268
    reference: chr 17
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3039T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3464T>C
  hgvsp: ENSP00000370712.5:p.Phe1155Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3494T>C
  hgvsp: ENSP00000460779.1:p.Phe1165Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.275T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3546T>C
  hgvsp: ENST00000414043.3:c.3546T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3479T>C
  hgvsp: ENSP00000321813.7:p.Phe1160Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3476T>C
  hgvsp: ENSP00000354828.5:p.Phe1159Ser
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.109T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3458T>C
  hgvsp: ENSP00000350910.4:p.Phe1153Ser
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe1155Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-4872299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872299
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.78C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-25C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-23C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-23C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-4872302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872302
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872302
    reference: chr 17
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.75G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-28G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-26G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-26G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-4872306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872306
    reference: chr 17
allele count: 5
allele frequency: 4.146418323851856e-5
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.71G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-30G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-32G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-30G>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-4872308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872308
    reference: chr 17
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-34C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.69C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-32C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-32C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-4872313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872313
    reference: chr 17
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-39G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.64G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-37G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-37G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 1
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: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-4872317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872317
    reference: chr 17
allele count: 5
allele frequency: 4.166875010417187e-5
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.60C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-41C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-43C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-41C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-4872322-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872322
    reference: chr 17
allele count: 177
allele frequency: 1.477289799188743e-3
allele num: 119814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.55G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-46G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-48G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-46G>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34618
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-4872328-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872329
    reference: chr 17
allele count: 35
allele frequency: 2.941522532062596e-4
allele num: 118986
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-55dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.48dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-53dupG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-53dupG
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 33514
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-4872328-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872327
    reference: chr 17
allele count: 1
allele frequency: 8.404350091607416e-6
allele num: 118986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3450-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3486-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3471-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3456-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000572192
  gene symbol: CAMTA2
  hgvsc: ENST00000572192.1:n.48delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3540-55delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3468-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3031-53delG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.267-53delG
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: GC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-4872395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872395
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872395
    reference: chr 17
allele count: 1
allele frequency: 8.630659555003193e-6
allele num: 115866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+50T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+50T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-4872400-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872400
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872400
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 115238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+45G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+45G>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-4872414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872414
    reference: chr 17
allele count: 3
allele frequency: 2.59852750108272e-5
allele num: 115450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+31C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+31C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-4872417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872417
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872417
    reference: chr 17
allele count: 1
allele frequency: 8.666412451901412e-6
allele num: 115388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+28C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+28C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-4872424-AGGGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872424
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872418
    reference: chr 17
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+15_3539+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+15_*3030+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+15_3470+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+15_266+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+15_3485+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+15_3455+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+15_3467+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+15_3449+20delCAGCCC
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: AGGGCTG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

17-4872425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872425
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872425
    reference: chr 17
allele count: 1
allele frequency: 8.669868738187303e-6
allele num: 115342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+20C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+20C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-4872434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872434
    reference: chr 17
allele count: 1172
allele frequency: 1.015034989260722e-2
allele num: 115464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.3455+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.3485+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+11G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+11G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 4.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 3.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 2.75e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 8.25e1
  variant carriers: 6
num of homozygotes: 54
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-4872435-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4872435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4872435
    reference: chr 17
allele count: 1
allele frequency: 8.648723448419014e-6
allele num: 115624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.3467+10A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000574442
  gene symbol: CAMTA2
  hgvsc: ENST00000574442.1:n.266+10A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.3449+10A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.*3030+10A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.3539+10A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.3470+10A>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 32540
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.454111268878275e-5
allele num: 15494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 2.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.928e-1

DP
type: SiteQuality
SIO_000300: 1.266636e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.315e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 1445
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.358087487283825e-5
allele num: 15728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59650
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.31332e6

FS
type: SiteQuality
SIO_000300: 1.731e0

QD
type: SiteQuality
SIO_000300: 1.286e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.214891264283081e-5
allele num: 10852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

VQSLOD
type: SiteQuality
SIO_000300: -2.498e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 4.949e0

QD
type: SiteQuality
SIO_000300: 2.725e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.379754e6

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581928053912108e-5
allele num: 63214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.399148e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -2.836e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 5.85e0

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7013
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541972491210757e-5
allele num: 64852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.966e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.436614e6

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 1.528e0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 7.75e1
variant carriers: 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: 16400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541972491210757e-5
allele num: 64852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.966e0

DP
type: SiteQuality
SIO_000300: 1.436614e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 1.528e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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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: 93
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531956614988664e-5
allele num: 65276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

VQSLOD
type: SiteQuality
SIO_000300: -2.941e0

DP
type: SiteQuality
SIO_000300: 1.4479e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.969e1

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
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GenotypeQuality
all individuals: 2657
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
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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: 1467
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 638
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 1.459492e6

QD
type: SiteQuality
SIO_000300: 6.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 3.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.971e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.971e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 1.459492e6

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 3.936e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.98e0

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 4.872e0

ClippingRankSum
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SIO_000300: 1.13e0

QD
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DP
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SIO_000300: 1.463244e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.472795e6

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 1.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.55e-2

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

African
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allele count: 15
allele frequency: 1.503910166432725e-3
allele num: 9974
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 2.399e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 1.477474e6

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.482314e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
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FS
type: SiteQuality
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MQRankSum
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MQ
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QD
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SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.805271392466001e-4
allele num: 66472
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

Latino
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

VQSLOD
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SIO_000300: 4.77e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.203043700562423e-4
allele num: 66498
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Other
type: Population
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.507617874207411e-5
allele num: 66554
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East Asian
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African
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European (Finnish)
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FS
type: SiteQuality
SIO_000300: 4.319e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 2750
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7571
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.924e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.661e0

QD
type: SiteQuality
SIO_000300: 1.079e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.49007e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -3.569e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.844e0

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 9.75e1
variant carriers: 17

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.250765260188464e-4
allele num: 66644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
SIO_000300: 1.49196e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
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variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
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GenotypeQuality
all individuals: 7575
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1585
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 3.86324125941665e-4
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.495848e6

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 6.469e0

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.786e0

VQSLOD
type: SiteQuality
SIO_000300: -2.286e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.497086e6

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 42991
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 670
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GenotypeQuality
all individuals: 1632
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 48
allele frequency: 4.62160600808781e-3
allele num: 10386
num of homozygotes: 1

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

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.500247e6

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7612
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variant carriers: 0

GenotypeQuality
all individuals: 2557
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 672
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1595
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variant carriers: 1

GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 2773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.52e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.586e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

DP
type: SiteQuality
SIO_000300: 1.498234e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7614
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variant carriers: 0

GenotypeQuality
all individuals: 1725
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variant carriers: 0

GenotypeQuality
all individuals: 8
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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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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2560
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GenotypeQuality
all individuals: 607
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.989e0

DP
type: SiteQuality
SIO_000300: 1.498474e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.042e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

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

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

GenotypeQuality
all individuals: 1778
bin: 9.75e1
variant carriers: 188

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 42921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2552
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GenotypeQuality
all individuals: 605
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 7603
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1717
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GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 143
allele frequency: 2.16338880484115e-2
allele num: 6610
num of homozygotes: 2

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

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

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.294964028776978e-4
allele num: 66720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.510827e6

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.416e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2562
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.301e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

DP
type: SiteQuality
SIO_000300: 1.501971e6

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
all individuals: 1642
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.501839e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e0

FS
type: SiteQuality
SIO_000300: 1.028e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.744e1

QD
type: SiteQuality
SIO_000300: 1.631e1

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.399e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 1.137e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.502174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.758e0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42922
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.628e0

DP
type: SiteQuality
SIO_000300: 1.502069e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.902e0

MQ
type: SiteQuality
SIO_000300: 5.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.724e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 42927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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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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variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.502085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

QD
type: SiteQuality
SIO_000300: 1.648e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.674e0

MQ
type: SiteQuality
SIO_000300: 5.472e1

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

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

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

European (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: 8652
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.502503e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.562e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.679e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.674e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.502255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 2566
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 1.502475e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1736
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.721e0

QD
type: SiteQuality
SIO_000300: 1.446e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.576e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.726e-1

DP
type: SiteQuality
SIO_000300: 1.502237e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.503088e6

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 2.572e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.502594e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

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: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.502511e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.167e1

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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bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
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DP
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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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African
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allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.407e0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.504443e6

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.091e1

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

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

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

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42793
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 74
allele frequency: 7.114016535281677e-3
allele num: 10402
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

DP
type: SiteQuality
SIO_000300: 1.510711e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 42799
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7637
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 5.073e0

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.504731e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e0

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

GenotypeQuality
all individuals: 42799
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 5.073e0

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.504731e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

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

GenotypeQuality
all individuals: 2558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 42770
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7633
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
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: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 7.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.504373e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 7618
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

FS
type: SiteQuality
SIO_000300: 3.851e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.50419e6

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7630
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 682
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 631
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variant carriers: 0

GenotypeQuality
all individuals: 2555
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variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.505384e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 2775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2553
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variant carriers: 0

GenotypeQuality
all individuals: 681
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variant carriers: 0

GenotypeQuality
all individuals: 42796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7624
bin: 6.75e1
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: 10384
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

FS
type: SiteQuality
SIO_000300: 8.901999999999999e0

QD
type: SiteQuality
SIO_000300: 1.583e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -7.924e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.50416e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2552
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 1675
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.504407e6

QD
type: SiteQuality
SIO_000300: 1.547e1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.961e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.50402e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
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GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.017e1

DP
type: SiteQuality
SIO_000300: 1.504072e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2549
bin: 7.25e1
variant carriers: 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: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.503784e6

QD
type: SiteQuality
SIO_000300: 1.453e1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7615
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.502841e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-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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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.483868e6

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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.862e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 4.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.049e0

DP
type: SiteQuality
SIO_000300: 1.481957e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.031e1

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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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.553098280914832e-5
allele num: 66198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.474059e6

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

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-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
all individuals: 688
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GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.472315e6

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

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 1.465469e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: -1.193e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.49e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 35068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.559686293583001e-5
allele num: 65794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 5.702e0

DP
type: SiteQuality
SIO_000300: 1.460428e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 2397
bin: 7.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 177

GenotypeQuality
all individuals: 1592
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.535626535626536e-4
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 120
allele frequency: 1.166180758017493e-2
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.871513822920473e-4
allele num: 65688
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 1.999652234394018e-3
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.460727e6

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

GenotypeQuality
all individuals: 1707
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 682
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variant carriers: 1

African
type: Population
allele count: 3
allele frequency: 2.937145094967691e-4
allele num: 10214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224739742804654e-4
allele num: 16330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749781277340332e-4
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.29421507882952e-4
allele num: 65204
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 1.477878e6

GenotypeQuality
all individuals: 1170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2400
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variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533648242439114e-5
allele num: 65204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.477878e6

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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GenotypeQuality
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GenotypeQuality
all individuals: 1185
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GenotypeQuality
all individuals: 13564
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.897e1

MQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

DP
type: SiteQuality
SIO_000300: 1.702664e6

VQSLOD
type: SiteQuality
SIO_000300: -1.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 7.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2399
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GenotypeQuality
all individuals: 3513
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: -3.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.699826e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.352e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7368
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.08918190840777e-5
allele num: 14106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 3.398e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.703205e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7377
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2280
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variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552361141295911e-5
allele num: 64418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.561e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 1.70318e6

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 4086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7384
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14144
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64410
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.712706e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

MQ
type: SiteQuality
SIO_000300: 5.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.012e0

GenotypeQuality
all individuals: 3017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6939
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64336
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 7.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.802e-1

DP
type: SiteQuality
SIO_000300: 1.711683e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.437e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 842
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17190
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1738
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1959
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8270
bin: 9.75e1
variant carriers: 1078

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6939
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 7

Latino
type: Population
allele count: 73
allele frequency: 6.412508784258608e-3
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.579952267303103e-3
allele num: 838
num of homozygotes: 0

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

African
type: Population
allele count: 1058
allele frequency: 1.065458207452165e-1
allele num: 9930
num of homozygotes: 54

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.405086412814388e-4
allele num: 14234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.438498352911928e-4
allele num: 64356
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

DP
type: SiteQuality
SIO_000300: 1.729053e6

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0