19-19023870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023870
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023870
    reference: chr 19
allele count: 3
allele frequency: 2.496671105193076e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-15C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-15C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-15C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-15C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9410
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-19023874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023874
    reference: chr 19
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-19C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-19C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-19C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-19C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21839
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-19023877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023877
    reference: chr 19
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-22T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-22T>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-22T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

19-19023878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023878
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023878
    reference: chr 19
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-23C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-23C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-23C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-23C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-19023878-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023878
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023878
    reference: chr 19
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-23C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-23C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-23C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-19023881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023881
    reference: chr 19
allele count: 4415
allele frequency: 3.68162108072048e-2
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-26G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-26G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-26G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.75e1
  variant carriers: 634
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 4.25e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 4.75e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 18614
  bin: 2.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 3.25e1
  variant carriers: 568
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.75e1
  variant carriers: 4
num of homozygotes: 96
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-19023887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023887
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023887
    reference: chr 19
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-32C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-32C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-32C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-19023888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023888
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023888
    reference: chr 19
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-33A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-33A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-33A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-33A>G
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-19023891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023891
    reference: chr 19
allele count: 2
allele frequency: 1.671541997492687e-5
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-36C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-36C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-36C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-19023900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023900
    reference: chr 19
allele count: 36
allele frequency: 3.01937431854399e-4
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-45G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-45G>A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-45G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-45G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13942
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

19-19023901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19023901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19023901
    reference: chr 19
allele count: 3
allele frequency: 2.518807092960774e-5
allele num: 119104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.127-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-46C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.127-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.127-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.144-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.127-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-46C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.127-46C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.133-46C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

19-19029984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19029984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19029984
    reference: chr 19
allele count: 2
allele frequency: 1.715412985676302e-5
allele num: 116590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6129C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+48C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6129C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-19029991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19029991
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19029991
    reference: chr 19
allele count: 2
allele frequency: 1.715089356155456e-5
allele num: 116612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6136C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6136C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+41C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+41C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37303
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

19-19029997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19029997
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19029997
    reference: chr 19
allele count: 1
allele frequency: 8.569127148708632e-6
allele num: 116698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6142C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6142C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+35C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-19029997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19029997
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19029997
    reference: chr 19
allele count: 1
allele frequency: 8.569127148708632e-6
allele num: 116698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6142C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6142C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-19030002-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030002
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030002
    reference: chr 19
allele count: 15
allele frequency: 1.282752958883492e-4
allele num: 116936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6147G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+30G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6147G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

19-19030011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030011
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030011
    reference: chr 19
allele count: 2
allele frequency: 1.706397283415525e-5
allele num: 117206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+21G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6156G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6156G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-19030015-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030015
    reference: chr 19
allele count: 1
allele frequency: 8.50933474021001e-6
allele num: 117518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6160G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6160G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+17G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+17G>C
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-19030018-CTGCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030014
    reference: chr 19
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+10_126+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6167_*168-6164delCGCA
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6167_*168-6164delCGCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+10_132+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+10_126+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+10_143+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+10_126+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+10_126+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+10_126+13delCGCA
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: CTGCG
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-19030019-TGCGCGGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030019
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030011
    reference: chr 19
allele count: 1
allele frequency: 8.500365515717176e-6
allele num: 117642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
hgvs: c.126+5_126+12delGGCCGCGC
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: TGCGCGGCC
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-19030022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030022
    reference: chr 19
allele count: 6
allele frequency: 5.091649694501019e-5
allele num: 117840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+10C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6167C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6167C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-19030023-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030023
    reference: chr 19
allele count: 1
allele frequency: 8.48147645542136e-6
allele num: 117904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6168G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+9G>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6168G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+9G>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS

19-19030027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030027
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030027
    reference: chr 19
allele count: 1
allele frequency: 8.452513777597457e-6
allele num: 118308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6172G>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+5G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6172G>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+5G>C
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
hgvs: c.126+5G>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-19030031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030031
    reference: chr 19
allele count: 1
allele frequency: 8.427581789681268e-6
allele num: 118658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.126+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.126+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6176G>A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.126+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.132+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.143+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.126+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.126+1G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6176G>A
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: c.126+1G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-19030056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030056
    reference: chr 19
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.119C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.102C>T
  hgvsp: ENST00000600932.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.102C>T
  hgvsp: ENST00000262812.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6201C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.102C>T
  hgvsp: ENST00000593827.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.108C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.102C>T
  hgvsp: ENST00000351079.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6201C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.102C>T
  hgvsp: ENST00000349893.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys34Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-19030056-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030056
    reference: chr 19
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.102C>G
  hgvsp: ENSP00000471034.1:p.Cys34Trp
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.108C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.102C>G
  hgvsp: ENSP00000262812.3:p.Cys34Trp
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.102C>G
  hgvsp: ENSP00000469035.1:p.Cys34Trp
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6201C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.102C>G
  hgvsp: ENSP00000343134.3:p.Cys34Trp
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.102C>G
  hgvsp: ENSP00000345674.3:p.Cys34Trp
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6201C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.119C>G
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys34Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

19-19030059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030059
    reference: chr 19
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.105G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.116G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.99G>A
  hgvsp: ENST00000262812.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.99G>A
  hgvsp: ENST00000351079.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.99G>A
  hgvsp: ENST00000349893.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6204G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.99G>A
  hgvsp: ENST00000593827.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.99G>A
  hgvsp: ENST00000600932.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6204G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln33Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-19030069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030069
    reference: chr 19
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.89G>C
  hgvsp: ENSP00000262812.3:p.Ser30Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.89G>C
  hgvsp: ENSP00000471034.1:p.Ser30Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6214G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.89G>C
  hgvsp: ENSP00000469035.1:p.Ser30Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.95G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.89G>C
  hgvsp: ENSP00000345674.3:p.Ser30Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.89G>C
  hgvsp: ENSP00000343134.3:p.Ser30Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.106G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6214G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser30Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

19-19030074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030074
    reference: chr 19
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.84C>T
  hgvsp: ENST00000349893.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.90C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.84C>T
  hgvsp: ENST00000262812.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.101C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.84C>T
  hgvsp: ENST00000593827.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.84C>T
  hgvsp: ENST00000600932.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.84C>T
  hgvsp: ENST00000351079.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6219C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6219C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile28Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-19030077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030077
    reference: chr 19
allele count: 100
allele frequency: 8.296964970213895e-4
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.81C>T
  hgvsp: ENST00000349893.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.81C>T
  hgvsp: ENST00000351079.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.81C>T
  hgvsp: ENST00000600932.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.81C>T
  hgvsp: ENST00000262812.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.98C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.87C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6222C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6222C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.81C>T
  hgvsp: ENST00000593827.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr27Tyr
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-19030080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030080
    reference: chr 19
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.78C>T
  hgvsp: ENST00000262812.4:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.78C>T
  hgvsp: ENST00000600932.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.95C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.78C>T
  hgvsp: ENST00000351079.4:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.78C>T
  hgvsp: ENST00000349893.4:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.84C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.78C>T
  hgvsp: ENST00000593827.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6225C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6225C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe26Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-19030085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030085
    reference: chr 19
allele count: 15
allele frequency: 1.244131844798699e-4
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.79G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6230G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.73G>A
  hgvsp: ENSP00000471034.1:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.90G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.73G>A
  hgvsp: ENSP00000262812.3:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.73G>A
  hgvsp: ENSP00000469035.1:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6230G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.73G>A
  hgvsp: ENSP00000345674.3:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.73G>A
  hgvsp: ENSP00000343134.3:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala25Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-19030089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030089
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030089
    reference: chr 19
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6234G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.69G>C
  hgvsp: ENSP00000471034.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.75G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.69G>C
  hgvsp: ENSP00000343134.3:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6234G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.86G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.69G>C
  hgvsp: ENSP00000262812.3:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.69G>C
  hgvsp: ENSP00000469035.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.69G>C
  hgvsp: ENSP00000345674.3:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys23Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

19-19030096-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030096
    reference: chr 19
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.79A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.62A>C
  hgvsp: ENSP00000469035.1:p.Asp21Ala
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.62A>C
  hgvsp: ENSP00000345674.3:p.Asp21Ala
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.62A>C
  hgvsp: ENSP00000471034.1:p.Asp21Ala
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.62A>C
  hgvsp: ENSP00000262812.3:p.Asp21Ala
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6241A>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6241A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.68A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.62A>C
  hgvsp: ENSP00000343134.3:p.Asp21Ala
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp21Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-19030099-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030099
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030099
    reference: chr 19
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6244T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.59T>G
  hgvsp: ENSP00000262812.3:p.Phe20Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6244T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.76T>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.59T>G
  hgvsp: ENSP00000471034.1:p.Phe20Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.59T>G
  hgvsp: ENSP00000469035.1:p.Phe20Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.59T>G
  hgvsp: ENSP00000343134.3:p.Phe20Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.65T>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.59T>G
  hgvsp: ENSP00000345674.3:p.Phe20Cys
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe20Cys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-19030105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030105
    reference: chr 19
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.53A>G
  hgvsp: ENSP00000469035.1:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.59A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6250A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.70A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.53A>G
  hgvsp: ENSP00000262812.3:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.53A>G
  hgvsp: ENSP00000345674.3:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.53A>G
  hgvsp: ENSP00000343134.3:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.53A>G
  hgvsp: ENSP00000471034.1:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6250A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu18Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-19030106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030106
    reference: chr 19
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.52G>A
  hgvsp: ENSP00000343134.3:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.52G>A
  hgvsp: ENSP00000262812.3:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.52G>A
  hgvsp: ENSP00000469035.1:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.52G>A
  hgvsp: ENSP00000471034.1:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.58G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6251G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.52G>A
  hgvsp: ENSP00000345674.3:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6251G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.69G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu18Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-19030107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030107
    reference: chr 19
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.51C>G
  hgvsp: ENSP00000469035.1:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.51C>G
  hgvsp: ENSP00000345674.3:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.51C>G
  hgvsp: ENSP00000343134.3:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.51C>G
  hgvsp: ENSP00000471034.1:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.68C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6252C>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6252C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.57C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.51C>G
  hgvsp: ENSP00000262812.3:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp17Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-19030109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030109
    reference: chr 19
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.49G>C
  hgvsp: ENSP00000469035.1:p.Asp17His
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.49G>C
  hgvsp: ENSP00000345674.3:p.Asp17His
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.49G>C
  hgvsp: ENSP00000471034.1:p.Asp17His
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.66G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6254G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.49G>C
  hgvsp: ENSP00000343134.3:p.Asp17His
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.55G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.49G>C
  hgvsp: ENSP00000262812.3:p.Asp17His
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6254G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp17His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-19030110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030110
    reference: chr 19
allele count: 10
allele frequency: 8.313519445321983e-5
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.54A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.48A>G
  hgvsp: ENST00000349893.4:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.48A>G
  hgvsp: ENST00000351079.4:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.48A>G
  hgvsp: ENST00000262812.4:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6255A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.65A>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.48A>G
  hgvsp: ENST00000593827.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.48A>G
  hgvsp: ENST00000600932.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6255A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val16Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-19030112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030112
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030112
    reference: chr 19
allele count: 5
allele frequency: 4.158211636339443e-5
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.46G>C
  hgvsp: ENSP00000345674.3:p.Val16Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6257G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.63G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6257G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.46G>C
  hgvsp: ENSP00000262812.3:p.Val16Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.46G>C
  hgvsp: ENSP00000471034.1:p.Val16Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.52G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.46G>C
  hgvsp: ENSP00000469035.1:p.Val16Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.46G>C
  hgvsp: ENSP00000343134.3:p.Val16Leu
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val16Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-19030113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030113
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030113
    reference: chr 19
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6258G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.45G>A
  hgvsp: ENST00000593827.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.62G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.45G>A
  hgvsp: ENST00000351079.4:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.45G>A
  hgvsp: ENST00000349893.4:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.45G>A
  hgvsp: ENST00000262812.4:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.45G>A
  hgvsp: ENST00000600932.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.51G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6258G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu15Glu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-19030116-C-CCCGGAGCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030125
    reference: chr 19
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: CCCGGAGCCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.33_41dupCGGCTCCGG
  hgvsp: ENSP00000469035.1:p.Gly12_Gly14dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.50_58dupCGGCTCCGG
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.39_47dupCGGCTCCGG
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.33_41dupCGGCTCCGG
  hgvsp: ENSP00000262812.3:p.Gly12_Gly14dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.33_41dupCGGCTCCGG
  hgvsp: ENSP00000471034.1:p.Gly12_Gly14dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.33_41dupCGGCTCCGG
  hgvsp: ENSP00000343134.3:p.Gly12_Gly14dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.33_41dupCGGCTCCGG
  hgvsp: ENSP00000345674.3:p.Gly12_Gly14dup
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly12_Gly14dup
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

19-19030116-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030116
    reference: chr 19
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.42G>C
  hgvsp: ENST00000600932.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.42G>C
  hgvsp: ENST00000351079.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6261G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.59G>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.42G>C
  hgvsp: ENST00000262812.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6261G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.42G>C
  hgvsp: ENST00000593827.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.42G>C
  hgvsp: ENST00000349893.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.48G>C
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-19030116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030116
    reference: chr 19
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.42G>A
  hgvsp: ENST00000351079.4:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.42G>A
  hgvsp: ENST00000262812.4:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.42G>A
  hgvsp: ENST00000349893.4:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6261G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.59G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.42G>A
  hgvsp: ENST00000593827.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.42G>A
  hgvsp: ENST00000600932.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6261G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.48G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-19030117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030117
    reference: chr 19
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.41G>A
  hgvsp: ENSP00000471034.1:p.Gly14Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.41G>A
  hgvsp: ENSP00000343134.3:p.Gly14Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.41G>A
  hgvsp: ENSP00000262812.3:p.Gly14Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6262G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.41G>A
  hgvsp: ENSP00000469035.1:p.Gly14Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.58G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.47G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.41G>A
  hgvsp: ENSP00000345674.3:p.Gly14Glu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6262G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly14Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-19030118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030118
    reference: chr 19
allele count: 2
allele frequency: 1.679035561973203e-5
allele num: 119116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6263G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.40G>A
  hgvsp: ENSP00000262812.3:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.40G>A
  hgvsp: ENSP00000345674.3:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.46G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.40G>A
  hgvsp: ENSP00000471034.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.40G>A
  hgvsp: ENSP00000343134.3:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6263G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.40G>A
  hgvsp: ENSP00000469035.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.57G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

19-19030120-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030120
    reference: chr 19
allele count: 2764
allele frequency: 2.315218119681029e-2
allele num: 119384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6265C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.38C>G
  hgvsp: ENSP00000469035.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.38C>G
  hgvsp: ENSP00000345674.3:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6265C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.38C>G
  hgvsp: ENSP00000471034.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.38C>G
  hgvsp: ENSP00000343134.3:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.55C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.38C>G
  hgvsp: ENSP00000262812.3:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.44C>G
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 6.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 5.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 5.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 4.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 936
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 6357
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 2
hgvs: p.Ser13Cys
num of homozygotes: 280
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

19-19030124-C-CGCCGGAGGCCGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030136
    reference: chr 19
allele count: 1
allele frequency: 8.430850166930833e-6
allele num: 118612
alternate allele: CGCCGGAGGCCGG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsp: ENSP00000345674.3:p.Pro8_Gly11dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsp: ENSP00000469035.1:p.Pro8_Gly11dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsp: ENSP00000343134.3:p.Pro8_Gly11dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsp: ENSP00000471034.1:p.Pro8_Gly11dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsp: ENSP00000262812.3:p.Pro8_Gly11dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro8_Gly11dup
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-19030124-CGCCGGAGGCCGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030112
    reference: chr 19
allele count: 9
allele frequency: 7.58776515023775e-5
allele num: 118612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsp: ENSP00000469035.1:p.Pro8_Gly11del
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsp: ENSP00000262812.3:p.Pro8_Gly11del
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsp: ENSP00000343134.3:p.Pro8_Gly11del
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsp: ENSP00000471034.1:p.Pro8_Gly11del
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsp: ENSP00000345674.3:p.Pro8_Gly11del
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro8_Gly11del
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: CGCCGGAGGCCGG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-19030127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030127
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030127
    reference: chr 19
allele count: 1
allele frequency: 8.423038695439767e-6
allele num: 118722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.31G>A
  hgvsp: ENSP00000471034.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.48G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6272G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.37G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6272G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.31G>A
  hgvsp: ENSP00000469035.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.31G>A
  hgvsp: ENSP00000343134.3:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.31G>A
  hgvsp: ENSP00000345674.3:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.31G>A
  hgvsp: ENSP00000262812.3:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly11Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-19030128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030128
    reference: chr 19
allele count: 103
allele frequency: 8.670909519480082e-4
allele num: 118788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.30C>T
  hgvsp: ENST00000349893.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.30C>T
  hgvsp: ENST00000351079.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.30C>T
  hgvsp: ENST00000600932.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.30C>T
  hgvsp: ENST00000262812.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.36C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.30C>T
  hgvsp: ENST00000593827.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6273C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.47C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6273C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser10Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-19030130-A-AGGCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030130
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030135
    reference: chr 19
allele count: 1
allele frequency: 8.431418839162254e-6
allele num: 118604
alternate allele: AGGCCG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.23_27dupCGGCC
  hgvsp: ENSP00000345674.3:p.Ser10ArgfsTer9
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.23_27dupCGGCC
  hgvsp: ENSP00000471034.1:p.Ser10ArgfsTer9
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6280_*168-6276dupCGGCC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.23_27dupCGGCC
  hgvsp: ENSP00000262812.3:p.Ser10ArgfsTer9
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.23_27dupCGGCC
  hgvsp: ENSP00000469035.1:p.Ser10ArgfsTer9
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.40_44dupCGGCC
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.23_27dupCGGCC
  hgvsp: ENSP00000343134.3:p.Ser10ArgfsTer9
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.29_33dupCGGCC
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6280_*168-6276dupCGGCC
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser10ArgfsTer9
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-19030130-A-AGGCCGGGCCGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030130
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030142
    reference: chr 19
allele count: 1
allele frequency: 8.431418839162254e-6
allele num: 118604
alternate allele: AGGCCGGGCCGGG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsp: ENSP00000471034.1:p.Pro6_Ala9dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsp: ENSP00000343134.3:p.Pro6_Ala9dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsp: ENSP00000262812.3:p.Pro6_Ala9dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsp: ENSP00000345674.3:p.Pro6_Ala9dup
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsp: ENSP00000469035.1:p.Pro6_Ala9dup
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro6_Ala9dup
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-19030134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030134
    reference: chr 19
allele count: 1
allele frequency: 8.433125316242199e-6
allele num: 118580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.30G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.24G>A
  hgvsp: ENST00000600932.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6279G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.24G>A
  hgvsp: ENST00000351079.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.24G>A
  hgvsp: ENST00000593827.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.24G>A
  hgvsp: ENST00000349893.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6279G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.24G>A
  hgvsp: ENST00000262812.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.41G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro8Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-19030135-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030135
    reference: chr 19
allele count: 4
allele frequency: 3.377066342468298e-5
allele num: 118446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6280C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.23C>G
  hgvsp: ENSP00000469035.1:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.23C>G
  hgvsp: ENSP00000345674.3:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.40C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.29C>G
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.23C>G
  hgvsp: ENSP00000343134.3:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.23C>G
  hgvsp: ENSP00000471034.1:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6280C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.23C>G
  hgvsp: ENSP00000262812.3:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro8Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-19030137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030137
    reference: chr 19
allele count: 2
allele frequency: 1.687080338765732e-5
allele num: 118548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6282C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.21C>T
  hgvsp: ENST00000349893.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.21C>T
  hgvsp: ENST00000262812.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.21C>T
  hgvsp: ENST00000600932.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6282C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.21C>T
  hgvsp: ENST00000351079.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.21C>T
  hgvsp: ENST00000593827.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.27C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.38C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly7Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-19030139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030139
    reference: chr 19
allele count: 1
allele frequency: 8.447372867038351e-6
allele num: 118380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.19G>A
  hgvsp: ENSP00000471034.1:p.Gly7Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.19G>A
  hgvsp: ENSP00000469035.1:p.Gly7Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.19G>A
  hgvsp: ENSP00000262812.3:p.Gly7Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6284G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.19G>A
  hgvsp: ENSP00000343134.3:p.Gly7Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.19G>A
  hgvsp: ENSP00000345674.3:p.Gly7Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6284G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.25G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.36G>A
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly7Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

19-19030140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030140
    reference: chr 19
allele count: 2
allele frequency: 1.682368775235532e-5
allele num: 118880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.18C>T
  hgvsp: ENST00000351079.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.18C>T
  hgvsp: ENST00000262812.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.18C>T
  hgvsp: ENST00000593827.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.18C>T
  hgvsp: ENST00000600932.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.35C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6285C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.18C>T
  hgvsp: ENST00000349893.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6285C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.24C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-19030140-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030140
    reference: chr 19
allele count: 1
allele frequency: 8.411843876177658e-6
allele num: 118880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.18C>A
  hgvsp: ENST00000600932.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.18C>A
  hgvsp: ENST00000351079.4:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.18C>A
  hgvsp: ENST00000593827.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.18C>A
  hgvsp: ENST00000349893.4:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.24C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6285C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.35C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.18C>A
  hgvsp: ENST00000262812.4:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6285C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-19030143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030143
    reference: chr 19
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.15C>T
  hgvsp: ENST00000351079.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.15C>T
  hgvsp: ENST00000593827.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.15C>T
  hgvsp: ENST00000262812.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6288C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.32C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.21C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.15C>T
  hgvsp: ENST00000349893.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.15C>T
  hgvsp: ENST00000600932.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6288C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala5Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

19-19030144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030144
    reference: chr 19
allele count: 2
allele frequency: 1.682340472064736e-5
allele num: 118882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.14C>T
  hgvsp: ENSP00000343134.3:p.Ala5Val
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.31C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.14C>T
  hgvsp: ENSP00000469035.1:p.Ala5Val
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6289C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.14C>T
  hgvsp: ENSP00000262812.3:p.Ala5Val
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.14C>T
  hgvsp: ENSP00000471034.1:p.Ala5Val
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.20C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.14C>T
  hgvsp: ENSP00000345674.3:p.Ala5Val
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6289C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala5Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-19030146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030146
    reference: chr 19
allele count: 1
allele frequency: 8.404915194405689e-6
allele num: 118978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.12G>A
  hgvsp: ENST00000600932.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.12G>A
  hgvsp: ENST00000262812.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.12G>A
  hgvsp: ENST00000593827.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.12G>A
  hgvsp: ENST00000351079.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.12G>A
  hgvsp: ENST00000349893.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6291G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.18G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.29G>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6291G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro4Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-19030147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030147
    reference: chr 19
allele count: 2
allele frequency: 1.681124335955887e-5
allele num: 118968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.17C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.11C>T
  hgvsp: ENSP00000343134.3:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6292C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.11C>T
  hgvsp: ENSP00000471034.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.11C>T
  hgvsp: ENSP00000345674.3:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.11C>T
  hgvsp: ENSP00000262812.3:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.11C>T
  hgvsp: ENSP00000469035.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6292C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.28C>T
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro4Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-19030148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030148
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030148
    reference: chr 19
allele count: 1
allele frequency: 8.405197774303629e-6
allele num: 118974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.10C>T
  hgvsp: ENSP00000262812.3:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.10C>T
  hgvsp: ENSP00000343134.3:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.27C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.10C>T
  hgvsp: ENSP00000471034.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.16C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.10C>T
  hgvsp: ENSP00000469035.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.10C>T
  hgvsp: ENSP00000345674.3:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6293C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6293C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37651
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro4Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-19030148-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030148
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030148
    reference: chr 19
allele count: 2
allele frequency: 1.681039554860726e-5
allele num: 118974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.16C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.10C>A
  hgvsp: ENSP00000471034.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.10C>A
  hgvsp: ENSP00000345674.3:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.10C>A
  hgvsp: ENSP00000262812.3:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.10C>A
  hgvsp: ENSP00000343134.3:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.10C>A
  hgvsp: ENSP00000469035.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6293C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.27C>A
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6293C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro4Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-19030150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030150
    reference: chr 19
allele count: 3
allele frequency: 2.521262648334286e-5
allele num: 118988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.14C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.8C>T
  hgvsp: ENSP00000469035.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.8C>T
  hgvsp: ENSP00000345674.3:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.25C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.8C>T
  hgvsp: ENSP00000471034.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.8C>T
  hgvsp: ENSP00000343134.3:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.8C>T
  hgvsp: ENSP00000262812.3:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6295C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6295C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro3Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

19-19030151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030151
    reference: chr 19
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.24C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.7C>T
  hgvsp: ENSP00000345674.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.7C>T
  hgvsp: ENSP00000262812.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.7C>T
  hgvsp: ENSP00000343134.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.13C>T
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.7C>T
  hgvsp: ENSP00000471034.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.7C>T
  hgvsp: ENSP00000469035.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6296C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6296C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37648
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro3Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-19030157-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030157
    reference: chr 19
allele count: 2
allele frequency: 1.682340472064736e-5
allele num: 118882
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6302A>C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.1A>C
  hgvsp: ENSP00000343134.3:p.Met1?
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.1A>C
  hgvsp: ENSP00000471034.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.1A>C
  hgvsp: ENSP00000345674.3:p.Met1?
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.7A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.1A>C
  hgvsp: ENSP00000262812.3:p.Met1?
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6302A>C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.1A>C
  hgvsp: ENSP00000469035.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.18A>C
  variant of: http://identifiers.org/hgnc/2234
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

19-19030163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19030163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19030163
    reference: chr 19
allele count: 10
allele frequency: 8.415383320710259e-5
allele num: 118830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000599964
  gene symbol: COPE
  hgvsc: ENST00000599964.1:n.1A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000469035
  ensembl transcript: ENST00000600932
  gene symbol: COPE
  hgvsc: ENST00000600932.1:c.-6A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000262812
  ensembl transcript: ENST00000262812
  gene symbol: COPE
  hgvsc: ENST00000262812.4:c.-6A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000345674
  ensembl transcript: ENST00000351079
  gene symbol: COPE
  hgvsc: ENST00000351079.4:c.-6A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000343134
  ensembl transcript: ENST00000349893
  gene symbol: COPE
  hgvsc: ENST00000349893.4:c.-6A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105669
  ensembl transcript: ENST00000597646
  gene symbol: COPE
  hgvsc: ENST00000597646.1:n.12A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105669
  ensembl protein: ENSP00000471034
  ensembl transcript: ENST00000593827
  gene symbol: COPE
  hgvsc: ENST00000593827.1:c.-6A>C
  variant of: http://identifiers.org/hgnc/2234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000471765
  ensembl transcript: ENST00000593484
  gene symbol: AC002985.3
  hgvsc: ENST00000593484.1:c.*168-6308A>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268193
  ensembl protein: ENSP00000469669
  ensembl transcript: ENST00000596918
  gene symbol: AC002985.3
  hgvsc: ENST00000596918.1:c.*168-6308A>C
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 22539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10669
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 3
allele frequency: 1.819284414796847e-4
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 2.01938e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10659
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.378e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

VQSLOD
type: SiteQuality
SIO_000300: -3.401e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

DP
type: SiteQuality
SIO_000300: 2.009525e6

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10654
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.499e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.999699e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 1.3954e1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

GenotypeQuality
all individuals: 10653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.648e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.999179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9059
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.648e1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

DP
type: SiteQuality
SIO_000300: 1.999179e6

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 1.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

GenotypeQuality
all individuals: 1996
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1437
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 12746
bin: 9.75e1
variant carriers: 4256

GenotypeQuality
all individuals: 3251
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2964
bin: 8.25e1
variant carriers: 11

GenotypeQuality
all individuals: 20278
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 672
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8641
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 6

Latino
type: Population
allele count: 254
allele frequency: 2.216791761214872e-2
allele num: 11458
num of homozygotes: 2

South Asian
type: Population
allele count: 354
allele frequency: 2.148318970748877e-2
allele num: 16478
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 3512
allele frequency: 5.344045771325968e-2
allele num: 65718
num of homozygotes: 84

African
type: Population
allele count: 89
allele frequency: 8.698201720093824e-3
allele num: 10232
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 31
allele frequency: 3.48314606741573e-2
allele num: 890
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 173
allele frequency: 2.654188401350107e-2
allele num: 6518
num of homozygotes: 4

DP
type: SiteQuality
SIO_000300: 1.98995e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 1578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 3.252e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.562e0

QD
type: SiteQuality
SIO_000300: 2.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

DP
type: SiteQuality
SIO_000300: 1.908938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1018
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.9049e6

QD
type: SiteQuality
SIO_000300: 9.31e0

GenotypeQuality
all individuals: 1501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8973
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.86689e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 2635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2090
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8989
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 14251
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.898658992100913e-4
allele num: 65324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-4
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.967729240456513e-4
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.802612e6

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 1875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
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variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8957
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.795607e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
all individuals: 601
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37294
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.143764343424817e-5
allele num: 63618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.543e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.711545e6

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.104377104377104e-4
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 2.717568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 7.98e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2634
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variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57217872527749e-5
allele num: 63606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

DP
type: SiteQuality
SIO_000300: 2.724752e6

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050640890943476e-4
allele num: 9518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 2.724752e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

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

GenotypeQuality
all individuals: 713
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37339
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.608034083992696e-4
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.568824323052305e-4
allele num: 63742
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.73016e6

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.129106952875649e-5
allele num: 63916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

DP
type: SiteQuality
SIO_000300: 2.738171e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 4.062e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.421e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

GenotypeQuality
all individuals: 1620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038853106170787e-4
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 8.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.741947e6

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557535356052582e-5
allele num: 64204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.102e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.5e1

DP
type: SiteQuality
SIO_000300: 2.744113e6

FS
type: SiteQuality
SIO_000300: 1.872e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
type: SiteQuality
SIO_000300: 9.01e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557729453548508e-5
allele num: 64196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.744576e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.476e1

MQRankSum
type: SiteQuality
SIO_000300: -4.821e0

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 1649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.619629758994062e-4
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.664179104477612e-5
allele num: 64320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

DP
type: SiteQuality
SIO_000300: 2.746318e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

GenotypeQuality
all individuals: 2478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 37344
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554001554001554e-5
allele num: 64350
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

QD
type: SiteQuality
SIO_000300: 1.623e1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 2.747166e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548419064135518e-5
allele num: 64582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

DP
type: SiteQuality
SIO_000300: 2.754439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 3.203e0

VQSLOD
type: SiteQuality
SIO_000300: -2.872e0

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.463e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.759438e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 10194
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.926e1

DP
type: SiteQuality
SIO_000300: 2.77962e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 1.123e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-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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GenotypeQuality
all individuals: 2379
bin: 8.25e1
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GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
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: 6612
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.123e0

DP
type: SiteQuality
SIO_000300: 2.77962e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
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SIO_000300: -3.246e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
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
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.043e1

DP
type: SiteQuality
SIO_000300: 2.780615e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

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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bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.684e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.184e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 6.581e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.786086e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.561e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 2.787196e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 99

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544628249409198e-5
allele num: 66012
num of homozygotes: 0

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

Latino
type: Population
allele count: 96
allele frequency: 8.30593528292092e-3
allele num: 11558
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.478e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.187e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 2.792906e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-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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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.746e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.375e0

DP
type: SiteQuality
SIO_000300: 2.788701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11
allele frequency: 6.662628709872804e-4
allele num: 16510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.056935190793458e-5
allele num: 66040
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.789103e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514050387596899e-5
allele num: 66048
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
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SIO_000300: 5.938e1

BaseQRankSum
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SIO_000300: 5.02e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 3.47e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

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

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

South Asian
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QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.785487e6

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 9.643000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.998e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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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bin: 3.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.419e0

ReadPosRankSum
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SIO_000300: 3.54e-1

MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
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SIO_000300: 2.78538e6

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65982
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -1.686e0

FS
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.881e1

DP
type: SiteQuality
SIO_000300: 2.78032e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.779346e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
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SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 2.77935e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65864
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.366867140513942e-4
allele num: 65844
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East Asian
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Other
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 7.596475235490732e-5
allele num: 65820
num of homozygotes: 0

Other
type: Population
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South Asian
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Latino
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African
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East Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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DP
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QD
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MQ
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
type: Population
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.162790697674419e-4
allele num: 8600
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

QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
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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East Asian
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allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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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 (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

Other
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQ
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535485059730369e-5
allele num: 65126
num of homozygotes: 0

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

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

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.070404372255826e-5
allele num: 65138
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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DP
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FS
type: SiteQuality
SIO_000300: 3.627e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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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Latino
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allele frequency: 1.229011597715077e-2
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African
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allele frequency: 2.456017592962815e-1
allele num: 10004
num of homozygotes: 280

European (Non-Finnish)
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allele frequency: 2.253702511268513e-3
allele num: 65226
num of homozygotes: 0

Other
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allele frequency: 1.463963963963964e-2
allele num: 888
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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African
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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allele frequency: 4.167534903104814e-4
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East Asian
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European (Non-Finnish)
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allele frequency: 7.707485509927241e-5
allele num: 64872
num of homozygotes: 0

Other
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European (Finnish)
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South Asian
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
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: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64984
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

QD
type: SiteQuality
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FS
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SIO_000300: 3.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.757e0

InbreedingCoeff
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SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.104e0

DP
type: SiteQuality
SIO_000300: 2.802009e6

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
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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: 103

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.847897224578839e-4
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538082933431771e-5
allele num: 65016
num of homozygotes: 0

East Asian
type: Population
allele count: 93
allele frequency: 1.08290638099674e-2
allele num: 8588
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.719e1

VQSLOD
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ReadPosRankSum
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FS
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SIO_000300: 1.773e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 2.810268e6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37596
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.045369015262388e-4
allele num: 9566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

DP
type: SiteQuality
SIO_000300: 2.803589e6

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 4.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.655e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 37596
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 2.803589e6

MQ
type: SiteQuality
SIO_000300: 5.655e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 4.189e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.802995e6

QD
type: SiteQuality
SIO_000300: 1.137e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

FS
type: SiteQuality
SIO_000300: 5.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 4

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.139388865634157e-4
allele num: 9556
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

FS
type: SiteQuality
SIO_000300: 3.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.803272e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.561e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.082044011588486e-5
allele num: 64892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.804287e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543638665061283e-5
allele num: 64782
num of homozygotes: 0

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

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 6614
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.326e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.808771e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 9.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.549e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536003932170066e-5
allele num: 65104
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.921e1

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.1e-3

ClippingRankSum
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65150
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
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SIO_000300: 1.641e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 3.744e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.808757e6

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

African
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allele count: 2
allele frequency: 2.062280882656218e-4
allele num: 9698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65128
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.808478e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.503e1

FS
type: SiteQuality
SIO_000300: 1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.93e0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 2.809206e6

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.313e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-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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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: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533930543624985e-5
allele num: 65192
num of homozygotes: 0

East Asian
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allele count: 0
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DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
type: SiteQuality
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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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: 2
allele frequency: 3.067861087249969e-5
allele num: 65192
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533460099368214e-5
allele num: 65212
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.079e0

DP
type: SiteQuality
SIO_000300: 2.810325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65178
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.587e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

FS
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.809461e6

GenotypeQuality
all individuals: 1716
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37647
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.648e-1

DP
type: SiteQuality
SIO_000300: 2.808135e6