4-5642488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642488
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642488
    reference: chr 4
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.983C>T
  hgvsp: ENSP00000311683.2:p.Ala328Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1223C>T
  hgvsp: ENSP00000339954.1:p.Ala408Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1223C>T
  hgvsp: ENSP00000342144.5:p.Ala408Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.983C>T
  hgvsp: ENSP00000423876.1:p.Ala328Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.983C>T
  hgvsp: ENSP00000431981.1:p.Ala328Val
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala408Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

4-5642493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642493
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642493
    reference: chr 4
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.978C>T
  hgvsp: ENST00000475313.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1218C>T
  hgvsp: ENST00000344408.5:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1218C>T
  hgvsp: ENST00000344938.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.978C>T
  hgvsp: ENST00000310917.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.978C>T
  hgvsp: ENST00000509670.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 1913
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genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile406Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

4-5642496-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642496
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642496
    reference: chr 4
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1215T>A
  hgvsp: ENSP00000342144.5:p.Asp405Glu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.975T>A
  hgvsp: ENSP00000423876.1:p.Asp325Glu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.975T>A
  hgvsp: ENSP00000311683.2:p.Asp325Glu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.975T>A
  hgvsp: ENSP00000431981.1:p.Asp325Glu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1215T>A
  hgvsp: ENSP00000339954.1:p.Asp405Glu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6814
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp405Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

4-5642497-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642497
    reference: chr 4
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1214A>T
  hgvsp: ENSP00000339954.1:p.Asp405Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.974A>T
  hgvsp: ENSP00000431981.1:p.Asp325Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.974A>T
  hgvsp: ENSP00000423876.1:p.Asp325Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1214A>T
  hgvsp: ENSP00000342144.5:p.Asp405Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.974A>T
  hgvsp: ENSP00000311683.2:p.Asp325Val
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45772
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp405Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-5642497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642497
    reference: chr 4
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.974A>G
  hgvsp: ENSP00000423876.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.974A>G
  hgvsp: ENSP00000311683.2:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1214A>G
  hgvsp: ENSP00000342144.5:p.Asp405Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1214A>G
  hgvsp: ENSP00000339954.1:p.Asp405Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.974A>G
  hgvsp: ENSP00000431981.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp405Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-5642502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642502
    reference: chr 4
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1209C>T
  hgvsp: ENST00000344938.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1209C>T
  hgvsp: ENST00000344408.5:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.969C>T
  hgvsp: ENST00000475313.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.969C>T
  hgvsp: ENST00000310917.2:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.969C>T
  hgvsp: ENST00000509670.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser403Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-5642502-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642502
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.969C>A
  hgvsp: ENSP00000311683.2:p.Ser323Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.969C>A
  hgvsp: ENSP00000423876.1:p.Ser323Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1209C>A
  hgvsp: ENSP00000339954.1:p.Ser403Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1209C>A
  hgvsp: ENSP00000342144.5:p.Ser403Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.969C>A
  hgvsp: ENSP00000431981.1:p.Ser323Arg
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser403Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

4-5642503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642503
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642503
    reference: chr 4
allele count: 110
allele frequency: 9.061701952384875e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1208G>A
  hgvsp: ENSP00000342144.5:p.Ser403Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.968G>A
  hgvsp: ENSP00000431981.1:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.968G>A
  hgvsp: ENSP00000311683.2:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.968G>A
  hgvsp: ENSP00000423876.1:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1208G>A
  hgvsp: ENSP00000339954.1:p.Ser403Asn
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser403Asn
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-5642504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642504
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642504
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.967A>G
  hgvsp: ENSP00000311683.2:p.Ser323Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1207A>G
  hgvsp: ENSP00000342144.5:p.Ser403Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.967A>G
  hgvsp: ENSP00000431981.1:p.Ser323Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1207A>G
  hgvsp: ENSP00000339954.1:p.Ser403Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.967A>G
  hgvsp: ENSP00000423876.1:p.Ser323Gly
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser403Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

4-5642507-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642507
    reference: chr 4
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.964A>C
  hgvsp: ENSP00000423876.1:p.Ile322Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1204A>C
  hgvsp: ENSP00000339954.1:p.Ile402Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.964A>C
  hgvsp: ENSP00000311683.2:p.Ile322Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1204A>C
  hgvsp: ENSP00000342144.5:p.Ile402Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.964A>C
  hgvsp: ENSP00000431981.1:p.Ile322Leu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45738
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile402Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

4-5642512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642512
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642512
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.959C>T
  hgvsp: ENSP00000423876.1:p.Thr320Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1199C>T
  hgvsp: ENSP00000339954.1:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.959C>T
  hgvsp: ENSP00000431981.1:p.Thr320Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.959C>T
  hgvsp: ENSP00000311683.2:p.Thr320Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1199C>T
  hgvsp: ENSP00000342144.5:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr400Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-5642513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642513
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642513
    reference: chr 4
allele count: 234
allele frequency: 1.92798879459504e-3
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.958A>G
  hgvsp: ENSP00000423876.1:p.Thr320Ala
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.958A>G
  hgvsp: ENSP00000431981.1:p.Thr320Ala
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.958A>G
  hgvsp: ENSP00000311683.2:p.Thr320Ala
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1198A>G
  hgvsp: ENSP00000339954.1:p.Thr400Ala
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1198A>G
  hgvsp: ENSP00000342144.5:p.Thr400Ala
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr400Ala
num of homozygotes: 8
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-5642516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642516
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642516
    reference: chr 4
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.955C>T
  hgvsp: ENSP00000423876.1:p.Arg319Ter
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1195C>T
  hgvsp: ENSP00000339954.1:p.Arg399Ter
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.955C>T
  hgvsp: ENSP00000311683.2:p.Arg319Ter
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1195C>T
  hgvsp: ENSP00000342144.5:p.Arg399Ter
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.955C>T
  hgvsp: ENSP00000431981.1:p.Arg319Ter
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45680
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg399Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

4-5642527-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642527
    reference: chr 4
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1184T>A
  hgvsp: ENSP00000342144.5:p.Leu395Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.944T>A
  hgvsp: ENSP00000311683.2:p.Leu315Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1184T>A
  hgvsp: ENSP00000339954.1:p.Leu395Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.944T>A
  hgvsp: ENSP00000423876.1:p.Leu315Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.944T>A
  hgvsp: ENSP00000431981.1:p.Leu315Gln
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu395Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

4-5642536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642536
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642536
    reference: chr 4
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.935A>G
  hgvsp: ENSP00000423876.1:p.Asp312Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.935A>G
  hgvsp: ENSP00000311683.2:p.Asp312Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1175A>G
  hgvsp: ENSP00000339954.1:p.Asp392Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1175A>G
  hgvsp: ENSP00000342144.5:p.Asp392Gly
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.935A>G
  hgvsp: ENSP00000431981.1:p.Asp312Gly
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp392Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/4-5642540-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642540
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642540
    reference: chr 4
allele count: 3
allele frequency: 2.474839135456195e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.931G>T
  hgvsp: ENSP00000431981.1:p.Ala311Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.931G>T
  hgvsp: ENSP00000311683.2:p.Ala311Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.931G>T
  hgvsp: ENSP00000423876.1:p.Ala311Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1171G>T
  hgvsp: ENSP00000342144.5:p.Ala391Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1171G>T
  hgvsp: ENSP00000339954.1:p.Ala391Ser
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala391Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-5642542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642542
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642542
    reference: chr 4
allele count: 28
allele frequency: 2.31004042570745e-4
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.929G>A
  hgvsp: ENSP00000311683.2:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1169G>A
  hgvsp: ENSP00000339954.1:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1169G>A
  hgvsp: ENSP00000342144.5:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.929G>A
  hgvsp: ENSP00000431981.1:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.929G>A
  hgvsp: ENSP00000423876.1:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg390Gln
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

4-5642543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642543
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642543
    reference: chr 4
allele count: 6
allele frequency: 4.95074013565028e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1168C>T
  hgvsp: ENSP00000342144.5:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.928C>T
  hgvsp: ENSP00000311683.2:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.928C>T
  hgvsp: ENSP00000423876.1:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.928C>T
  hgvsp: ENSP00000431981.1:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1168C>T
  hgvsp: ENSP00000339954.1:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg390Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

4-5642555-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642555
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642555
    reference: chr 4
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.916G>C
  hgvsp: ENSP00000431981.1:p.Ala306Pro
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.916G>C
  hgvsp: ENSP00000311683.2:p.Ala306Pro
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1156G>C
  hgvsp: ENSP00000342144.5:p.Ala386Pro
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1156G>C
  hgvsp: ENSP00000339954.1:p.Ala386Pro
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.916G>C
  hgvsp: ENSP00000423876.1:p.Ala306Pro
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45655
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala386Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

4-5642557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642557
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642557
    reference: chr 4
allele count: 16
allele frequency: 1.321658681645465e-4
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.914T>C
  hgvsp: ENSP00000311683.2:p.Ile305Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.914T>C
  hgvsp: ENSP00000431981.1:p.Ile305Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.914T>C
  hgvsp: ENSP00000423876.1:p.Ile305Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1154T>C
  hgvsp: ENSP00000342144.5:p.Ile385Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1154T>C
  hgvsp: ENSP00000339954.1:p.Ile385Thr
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile385Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-5642558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642558
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642558
    reference: chr 4
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.913A>G
  hgvsp: ENSP00000311683.2:p.Ile305Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.913A>G
  hgvsp: ENSP00000431981.1:p.Ile305Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1153A>G
  hgvsp: ENSP00000342144.5:p.Ile385Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1153A>G
  hgvsp: ENSP00000339954.1:p.Ile385Val
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.913A>G
  hgvsp: ENSP00000423876.1:p.Ile305Val
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile385Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-5642570-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642570
    reference: chr 4
allele count: 14
allele frequency: 1.158633474576271e-4
allele num: 120832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-5C>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-5C>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-5C>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-5C>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-5C>G
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45646
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1146-5C>G
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/4-5642574-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642574
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642574
    reference: chr 4
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-9G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-9G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-9G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-9G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-9G>T
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/4-5642583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642583
    reference: chr 4
allele count: 8
allele frequency: 6.627893489751619e-5
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-18G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-18G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-18G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-18G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-18G>T
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45635
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-5642592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642592
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642592
    reference: chr 4
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-27A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-27A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-27A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-27A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-27A>G
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-5642599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642599
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642599
    reference: chr 4
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-34G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-34G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-34G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-34G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-34G>A
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

4-5642612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642612
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642612
    reference: chr 4
allele count: 8516
allele frequency: 7.080499526082112e-2
allele num: 120274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-47G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-47G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-47G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-47G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-47G>C
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 6.25e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 5.25e1
  variant carriers: 1030
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.75e1
  variant carriers: 654
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.75e1
  variant carriers: 1003
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 538
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 9.75e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 4.25e1
  variant carriers: 869
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 5.75e1
  variant carriers: 941
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 47486
  bin: 9.75e1
  variant carriers: 8035
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 380
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-5642617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5642617
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5642617
    reference: chr 4
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.906-52T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.906-52T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1146-52T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.906-52T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1146-52T>C
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

4-5664786-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664786
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664786
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+48T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+48T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+48T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+48T>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+48T>C
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-5664789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664789
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664789
    reference: chr 4
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+45G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+45G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+45G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+45G>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+45G>A
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

4-5664793-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664793
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664793
    reference: chr 4
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+41G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+41G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+41G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+41G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+41G>C
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

4-5664798-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664798
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664796
    reference: chr 4
allele count: 2494
allele frequency: 2.056839362000429e-2
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+34_1145+35delAT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+34_905+35delAT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+34_905+35delAT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+34_1145+35delAT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+34_905+35delAT
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 4.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 5.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 6.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 9.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 4.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.75e1
  variant carriers: 251
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 72
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: CAT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-5664801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664801
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664801
    reference: chr 4
allele count: 1
allele frequency: 8.589736982253604e-6
allele num: 116418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+33C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+33C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+33C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+33C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+33C>T
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

4-5664801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664801
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664801
    reference: chr 4
allele count: 1
allele frequency: 8.589736982253604e-6
allele num: 116418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+33C>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+33C>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+33C>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+33C>A
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+33C>A
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

4-5664802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664802
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664802
    reference: chr 4
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+32A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+32A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+32A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+32A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+32A>G
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-5664820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664820
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664820
    reference: chr 4
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1145+14A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.905+14A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.905+14A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.905+14A>G
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1145+14A>G
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-5664845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664845
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664845
    reference: chr 4
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.894A>G
  hgvsp: ENST00000475313.1:c.894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.894A>G
  hgvsp: ENST00000310917.2:c.894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1134A>G
  hgvsp: ENST00000344938.1:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.894A>G
  hgvsp: ENST00000509670.1:c.894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1134A>G
  hgvsp: ENST00000344408.5:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln378Gln
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: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

4-5664857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664857
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664857
    reference: chr 4
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.882G>A
  hgvsp: ENST00000310917.2:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1122G>A
  hgvsp: ENST00000344938.1:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1122G>A
  hgvsp: ENST00000344408.5:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.882G>A
  hgvsp: ENST00000475313.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.882G>A
  hgvsp: ENST00000509670.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46476
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly374Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

4-5664862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664862
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664862
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1117C>T
  hgvsp: ENSP00000339954.1:p.Pro373Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.877C>T
  hgvsp: ENSP00000423876.1:p.Pro293Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.877C>T
  hgvsp: ENSP00000311683.2:p.Pro293Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.877C>T
  hgvsp: ENSP00000431981.1:p.Pro293Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1117C>T
  hgvsp: ENSP00000342144.5:p.Pro373Ser
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro373Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

4-5664865-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664865
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.874G>C
  hgvsp: ENSP00000423876.1:p.Asp292His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.874G>C
  hgvsp: ENSP00000431981.1:p.Asp292His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1114G>C
  hgvsp: ENSP00000339954.1:p.Asp372His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1114G>C
  hgvsp: ENSP00000342144.5:p.Asp372His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.874G>C
  hgvsp: ENSP00000311683.2:p.Asp292His
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp372His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

4-5664866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664866
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664866
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.873G>A
  hgvsp: ENST00000509670.1:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1113G>A
  hgvsp: ENST00000344408.5:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.873G>A
  hgvsp: ENST00000475313.1:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1113G>A
  hgvsp: ENST00000344938.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.873G>A
  hgvsp: ENST00000310917.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu371Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

4-5664869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664869
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664869
    reference: chr 4
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.870C>T
  hgvsp: ENST00000509670.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.870C>T
  hgvsp: ENST00000310917.2:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.870C>T
  hgvsp: ENST00000475313.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1110C>T
  hgvsp: ENST00000344938.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1110C>T
  hgvsp: ENST00000344408.5:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser370Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

4-5664870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664870
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664870
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.869C>T
  hgvsp: ENSP00000431981.1:p.Ser290Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.869C>T
  hgvsp: ENSP00000311683.2:p.Ser290Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1109C>T
  hgvsp: ENSP00000342144.5:p.Ser370Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1109C>T
  hgvsp: ENSP00000339954.1:p.Ser370Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.869C>T
  hgvsp: ENSP00000423876.1:p.Ser290Phe
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser370Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

4-5664872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664872
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664872
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.867T>C
  hgvsp: ENST00000509670.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.867T>C
  hgvsp: ENST00000310917.2:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.867T>C
  hgvsp: ENST00000475313.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1107T>C
  hgvsp: ENST00000344938.1:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1107T>C
  hgvsp: ENST00000344408.5:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser369Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-5664880-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664880
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664880
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.859A>C
  hgvsp: ENSP00000311683.2:p.Ile287Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1099A>C
  hgvsp: ENSP00000342144.5:p.Ile367Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1099A>C
  hgvsp: ENSP00000339954.1:p.Ile367Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.859A>C
  hgvsp: ENSP00000431981.1:p.Ile287Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.859A>C
  hgvsp: ENSP00000423876.1:p.Ile287Leu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile367Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

4-5664887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664887
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664887
    reference: chr 4
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.852G>A
  hgvsp: ENSP00000431981.1:p.Met284Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1092G>A
  hgvsp: ENSP00000342144.5:p.Met364Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.852G>A
  hgvsp: ENSP00000423876.1:p.Met284Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.852G>A
  hgvsp: ENSP00000311683.2:p.Met284Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1092G>A
  hgvsp: ENSP00000339954.1:p.Met364Ile
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met364Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

4-5664895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664895
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664895
    reference: chr 4
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1084G>A
  hgvsp: ENSP00000342144.5:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1084G>A
  hgvsp: ENSP00000339954.1:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.844G>A
  hgvsp: ENSP00000423876.1:p.Asp282Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.844G>A
  hgvsp: ENSP00000431981.1:p.Asp282Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.844G>A
  hgvsp: ENSP00000311683.2:p.Asp282Asn
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp362Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

4-5664896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664896
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664896
    reference: chr 4
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.843C>T
  hgvsp: ENST00000310917.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.843C>T
  hgvsp: ENST00000475313.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.843C>T
  hgvsp: ENST00000509670.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1083C>T
  hgvsp: ENST00000344938.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1083C>T
  hgvsp: ENST00000344408.5:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn361Asn
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: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-5664897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664897
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664897
    reference: chr 4
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1082A>G
  hgvsp: ENSP00000342144.5:p.Asn361Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1082A>G
  hgvsp: ENSP00000339954.1:p.Asn361Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.842A>G
  hgvsp: ENSP00000431981.1:p.Asn281Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.842A>G
  hgvsp: ENSP00000311683.2:p.Asn281Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.842A>G
  hgvsp: ENSP00000423876.1:p.Asn281Ser
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46474
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn361Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

4-5664900-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664900
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664900
    reference: chr 4
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1079T>A
  hgvsp: ENSP00000339954.1:p.Leu360His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.839T>A
  hgvsp: ENSP00000431981.1:p.Leu280His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.839T>A
  hgvsp: ENSP00000423876.1:p.Leu280His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1079T>A
  hgvsp: ENSP00000342144.5:p.Leu360His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.839T>A
  hgvsp: ENSP00000311683.2:p.Leu280His
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu360His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

4-5664901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664901
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664901
    reference: chr 4
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.838C>T
  hgvsp: ENSP00000311683.2:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1078C>T
  hgvsp: ENSP00000339954.1:p.Leu360Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.838C>T
  hgvsp: ENSP00000423876.1:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.838C>T
  hgvsp: ENSP00000431981.1:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1078C>T
  hgvsp: ENSP00000342144.5:p.Leu360Phe
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu360Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/4-5664910-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664910
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664910
    reference: chr 4
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1069G>T
  hgvsp: ENSP00000339954.1:p.Asp357Tyr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.829G>T
  hgvsp: ENSP00000423876.1:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1069G>T
  hgvsp: ENSP00000342144.5:p.Asp357Tyr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.829G>T
  hgvsp: ENSP00000311683.2:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.829G>T
  hgvsp: ENSP00000431981.1:p.Asp277Tyr
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp357Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

4-5664915-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664915
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664915
    reference: chr 4
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.824A>G
  hgvsp: ENSP00000423876.1:p.Asn275Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1064A>G
  hgvsp: ENSP00000342144.5:p.Asn355Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1064A>G
  hgvsp: ENSP00000339954.1:p.Asn355Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.824A>G
  hgvsp: ENSP00000311683.2:p.Asn275Ser
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.824A>G
  hgvsp: ENSP00000431981.1:p.Asn275Ser
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn355Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-5664917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664917
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664917
    reference: chr 4
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1062G>A
  hgvsp: ENST00000344938.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.822G>A
  hgvsp: ENST00000509670.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.822G>A
  hgvsp: ENST00000310917.2:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.822G>A
  hgvsp: ENST00000475313.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1062G>A
  hgvsp: ENST00000344408.5:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val354Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-5664919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664919
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664919
    reference: chr 4
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1060G>A
  hgvsp: ENSP00000339954.1:p.Val354Met
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.820G>A
  hgvsp: ENSP00000423876.1:p.Val274Met
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.820G>A
  hgvsp: ENSP00000431981.1:p.Val274Met
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1060G>A
  hgvsp: ENSP00000342144.5:p.Val354Met
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.820G>A
  hgvsp: ENSP00000311683.2:p.Val274Met
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val354Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

4-5664920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664920
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664920
    reference: chr 4
allele count: 931
allele frequency: 7.668357933579336e-3
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.819C>T
  hgvsp: ENST00000475313.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.819C>T
  hgvsp: ENST00000310917.2:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1059C>T
  hgvsp: ENST00000344938.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1059C>T
  hgvsp: ENST00000344408.5:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.819C>T
  hgvsp: ENST00000509670.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly353Gly
num of homozygotes: 41
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-5664920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664920
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664920
    reference: chr 4
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1059C>A
  hgvsp: ENST00000344408.5:c.1059C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.819C>A
  hgvsp: ENST00000310917.2:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.819C>A
  hgvsp: ENST00000475313.1:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1059C>A
  hgvsp: ENST00000344938.1:c.1059C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.819C>A
  hgvsp: ENST00000509670.1:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly353Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

4-5664925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664925
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664925
    reference: chr 4
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.814G>C
  hgvsp: ENSP00000431981.1:p.Asp272His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.814G>C
  hgvsp: ENSP00000423876.1:p.Asp272His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1054G>C
  hgvsp: ENSP00000342144.5:p.Asp352His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.814G>C
  hgvsp: ENSP00000311683.2:p.Asp272His
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1054G>C
  hgvsp: ENSP00000339954.1:p.Asp352His
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp352His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

4-5664930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664930
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664930
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1049C>T
  hgvsp: ENSP00000342144.5:p.Ser350Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.809C>T
  hgvsp: ENSP00000423876.1:p.Ser270Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.809C>T
  hgvsp: ENSP00000431981.1:p.Ser270Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.809C>T
  hgvsp: ENSP00000311683.2:p.Ser270Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1049C>T
  hgvsp: ENSP00000339954.1:p.Ser350Leu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser350Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-5664931-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664931
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664931
    reference: chr 4
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.808T>A
  hgvsp: ENSP00000431981.1:p.Ser270Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.808T>A
  hgvsp: ENSP00000311683.2:p.Ser270Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1048T>A
  hgvsp: ENSP00000342144.5:p.Ser350Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1048T>A
  hgvsp: ENSP00000339954.1:p.Ser350Thr
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.808T>A
  hgvsp: ENSP00000423876.1:p.Ser270Thr
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser350Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-5664938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664938
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664938
    reference: chr 4
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.801G>A
  hgvsp: ENST00000509670.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.801G>A
  hgvsp: ENST00000475313.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.801G>A
  hgvsp: ENST00000310917.2:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1041G>A
  hgvsp: ENST00000344938.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1041G>A
  hgvsp: ENST00000344408.5:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro347Pro
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: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

4-5664939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664939
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664939
    reference: chr 4
allele count: 217
allele frequency: 1.787538304392237e-3
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.800C>T
  hgvsp: ENSP00000431981.1:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1040C>T
  hgvsp: ENSP00000339954.1:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.800C>T
  hgvsp: ENSP00000311683.2:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1040C>T
  hgvsp: ENSP00000342144.5:p.Pro347Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.800C>T
  hgvsp: ENSP00000423876.1:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro347Leu
num of homozygotes: 3
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-5664945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664945
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664945
    reference: chr 4
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.794C>T
  hgvsp: ENSP00000423876.1:p.Pro265Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.794C>T
  hgvsp: ENSP00000311683.2:p.Pro265Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1034C>T
  hgvsp: ENSP00000342144.5:p.Pro345Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1034C>T
  hgvsp: ENSP00000339954.1:p.Pro345Leu
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.794C>T
  hgvsp: ENSP00000431981.1:p.Pro265Leu
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro345Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-5664954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664954
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664954
    reference: chr 4
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.785A>G
  hgvsp: ENSP00000431981.1:p.Lys262Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1025A>G
  hgvsp: ENSP00000339954.1:p.Lys342Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.785A>G
  hgvsp: ENSP00000423876.1:p.Lys262Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.785A>G
  hgvsp: ENSP00000311683.2:p.Lys262Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1025A>G
  hgvsp: ENSP00000342144.5:p.Lys342Arg
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys342Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

4-5664957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664957
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664957
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1022G>A
  hgvsp: ENSP00000339954.1:p.Ser341Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.782G>A
  hgvsp: ENSP00000431981.1:p.Ser261Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1022G>A
  hgvsp: ENSP00000342144.5:p.Ser341Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.782G>A
  hgvsp: ENSP00000311683.2:p.Ser261Asn
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.782G>A
  hgvsp: ENSP00000423876.1:p.Ser261Asn
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46359
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser341Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-5664959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664959
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664959
    reference: chr 4
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1020G>A
  hgvsp: ENST00000344408.5:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.780G>A
  hgvsp: ENST00000310917.2:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1020G>A
  hgvsp: ENST00000344938.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.780G>A
  hgvsp: ENST00000475313.1:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.780G>A
  hgvsp: ENST00000509670.1:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46359
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu340Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-5664969-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664969
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664968
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.769delT
  hgvsp: ENSP00000423876.1:p.Trp257GlyfsTer18
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.769delT
  hgvsp: ENSP00000431981.1:p.Trp257GlyfsTer18
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.769delT
  hgvsp: ENSP00000311683.2:p.Trp257GlyfsTer18
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1009delT
  hgvsp: ENSP00000342144.5:p.Trp337GlyfsTer18
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1009delT
  hgvsp: ENSP00000339954.1:p.Trp337GlyfsTer18
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp337GlyfsTer18
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: CA
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

4-5664970-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664970
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664970
    reference: chr 4
allele count: 9
allele frequency: 7.415952537903758e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1009T>A
  hgvsp: ENSP00000339954.1:p.Trp337Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.769T>A
  hgvsp: ENSP00000311683.2:p.Trp257Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.769T>A
  hgvsp: ENSP00000423876.1:p.Trp257Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.769T>A
  hgvsp: ENSP00000431981.1:p.Trp257Arg
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1009T>A
  hgvsp: ENSP00000342144.5:p.Trp337Arg
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp337Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/4-5664973-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664973
    reference: chr 4
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766G>T
  hgvsp: ENSP00000423876.1:p.Val256Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766G>T
  hgvsp: ENSP00000311683.2:p.Val256Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766G>T
  hgvsp: ENSP00000431981.1:p.Val256Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006G>T
  hgvsp: ENSP00000339954.1:p.Val336Phe
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006G>T
  hgvsp: ENSP00000342144.5:p.Val336Phe
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val336Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

4-5664973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664973
    reference: chr 4
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766G>A
  hgvsp: ENSP00000431981.1:p.Val256Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766G>A
  hgvsp: ENSP00000423876.1:p.Val256Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006G>A
  hgvsp: ENSP00000339954.1:p.Val336Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766G>A
  hgvsp: ENSP00000311683.2:p.Val256Ile
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006G>A
  hgvsp: ENSP00000342144.5:p.Val336Ile
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val336Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

4-5664974-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664974
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664974
    reference: chr 4
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006-1G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006-1G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766-1G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766-1G>C
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766-1G>C
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46358
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1006-1G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

4-5664977-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664977
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664974
    reference: chr 4
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766-7_766-5delCCT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006-7_1006-5delCCT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006-7_1006-5delCCT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766-7_766-5delCCT
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766-7_766-5delCCT
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1006-7_1006-5delCCT
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CAGG
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-5664980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664980
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664980
    reference: chr 4
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766-7C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006-7C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766-7C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006-7C>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766-7C>T
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1006-7C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/4-5664988-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5664988
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 5664988
    reference: chr 4
allele count: 39
allele frequency: 3.215540128291806e-4
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000342144
  ensembl transcript: ENST00000344408
  gene symbol: EVC2
  hgvsc: ENST00000344408.5:c.1006-15G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000339954
  ensembl transcript: ENST00000344938
  gene symbol: EVC2
  hgvsc: ENST00000344938.1:c.1006-15G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000311683
  ensembl transcript: ENST00000310917
  gene symbol: EVC2
  hgvsc: ENST00000310917.2:c.766-15G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000431981
  ensembl transcript: ENST00000475313
  gene symbol: EVC2
  hgvsc: ENST00000475313.1:c.766-15G>T
  variant of: http://identifiers.org/hgnc/19747
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173040
  ensembl protein: ENSP00000423876
  ensembl transcript: ENST00000509670
  gene symbol: EVC2
  hgvsc: ENST00000509670.1:c.766-15G>T
  variant of: http://identifiers.org/hgnc/19747
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

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

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

GenotypeQuality
all individuals: 1919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.902e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.218e0

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 5.69e0

DP
type: SiteQuality
SIO_000300: 3.324941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1029
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.934e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.514e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.028e0

DP
type: SiteQuality
SIO_000300: 3.324704e6

QD
type: SiteQuality
SIO_000300: 1.847e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
all individuals: 1913
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3966
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45773
bin: 9.75e1
variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 3.324528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

QD
type: SiteQuality
SIO_000300: 1.528e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 3.324401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.642e1

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

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

GenotypeQuality
all individuals: 3971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.324401e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 1907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45772
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3967
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.04890913450012e-4
allele num: 66736
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.469e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 3.324199e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.962e0

QD
type: SiteQuality
SIO_000300: 1.157e1

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

GenotypeQuality
all individuals: 2121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45772
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.962e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 3.324199e6

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.469e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

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

GenotypeQuality
all individuals: 45769
bin: 9.75e1
variant carriers: 109

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

GenotypeQuality
all individuals: 1911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498486528606108e-4
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 95
allele frequency: 5.754088431253785e-3
allele num: 16510
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

FS
type: SiteQuality
SIO_000300: 1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 3.324685e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1915
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45738
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

DP
type: SiteQuality
SIO_000300: 3.320648e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 4.857e0

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 6.849e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.320446e6

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.129e0

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.952e0

FS
type: SiteQuality
SIO_000300: 7.857e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.320045e6

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 45764
bin: 9.75e1
variant carriers: 226

GenotypeQuality
all individuals: 2126
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variant carriers: 0

GenotypeQuality
all individuals: 3918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

African
type: Population
allele count: 220
allele frequency: 2.119868953555598e-2
allele num: 10378
num of homozygotes: 8

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 3.321201e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.504e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

GenotypeQuality
all individuals: 2126
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1838
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 3.311316e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 5.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3962
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e0

QD
type: SiteQuality
SIO_000300: 1.285e1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 3.310023e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1888
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2123
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
SIO_000300: 5.534e0

QD
type: SiteQuality
SIO_000300: 1.519e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.075e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

DP
type: SiteQuality
SIO_000300: 3.307307e6

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45667
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.874e0

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.487e0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 3.307031e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45669
bin: 9.75e1
variant carriers: 27

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

GenotypeQuality
all individuals: 3805
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.514050387596899e-3
allele num: 16512
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 3.30705e6

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

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

GenotypeQuality
all individuals: 45660
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1829
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.305786e6

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

GenotypeQuality
all individuals: 2613
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.302973e6

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 1.6013e1

VQSLOD
type: SiteQuality
SIO_000300: -2.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 3687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45657
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 1014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.689922480620155e-4
allele num: 16512
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 3.302635e6

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

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

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

GenotypeQuality
all individuals: 1400
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 3.301593e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.950429094400768e-4
allele num: 66652
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

DP
type: SiteQuality
SIO_000300: 3.297581e6

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45639
bin: 9.75e1
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GenotypeQuality
all individuals: 1400
bin: 8.75e1
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GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 3.295471e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 8.369999999999999e0

QD
type: SiteQuality
SIO_000300: 8.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.304e0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200984807542185e-4
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.465e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

DP
type: SiteQuality
SIO_000300: 3.291679e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 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: 66584
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 3.285045e6

QD
type: SiteQuality
SIO_000300: 2.008e1

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.416e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

FS
type: SiteQuality
SIO_000300: 6.358e0

QD
type: SiteQuality
SIO_000300: 2.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.278154e6

GenotypeQuality
all individuals: 2221
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1503
bin: 7.75e1
variant carriers: 14

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 390
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 4

Latino
type: Population
allele count: 337
allele frequency: 2.91522491349481e-2
allele num: 11560
num of homozygotes: 3

South Asian
type: Population
allele count: 381
allele frequency: 2.309370832828221e-2
allele num: 16498
num of homozygotes: 11

African
type: Population
allele count: 317
allele frequency: 3.273440726972326e-2
allele num: 9684
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 946
allele frequency: 1.432465172622653e-1
allele num: 6604
num of homozygotes: 60

European (Non-Finnish)
type: Population
allele count: 6299
allele frequency: 9.487017290198205e-2
allele num: 66396
num of homozygotes: 288

East Asian
type: Population
allele count: 151
allele frequency: 1.750115901715345e-2
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 85
allele frequency: 9.402654867256637e-2
allele num: 904
num of homozygotes: 7

DP
type: SiteQuality
SIO_000300: 3.262625e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

FS
type: SiteQuality
SIO_000300: 3.898e0

QD
type: SiteQuality
SIO_000300: 1.536e1

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45362
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.171e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.369e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 1.374e1

MQ
type: SiteQuality
SIO_000300: 5.697e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 3.234346e6

GenotypeQuality
all individuals: 1635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45373
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
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: 8650
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.184012e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

VQSLOD
type: SiteQuality
SIO_000300: -9.749e-1

FS
type: SiteQuality
SIO_000300: 1.0943e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45375
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

DP
type: SiteQuality
SIO_000300: 3.185054e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.186934e6

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.875e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 8.917e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 2626
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46873
bin: 9.75e1
variant carriers: 2416

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 43
allele frequency: 2.6047976738551e-3
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 82
allele frequency: 7.084845343010195e-3
allele num: 11574
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1530
allele frequency: 2.296194020890863e-2
allele num: 66632
num of homozygotes: 22

Other
type: Population
allele count: 28
allele frequency: 3.097345132743363e-2
allele num: 904
num of homozygotes: 3

African
type: Population
allele count: 28
allele frequency: 2.699055330634278e-3
allele num: 10374
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 783
allele frequency: 1.18385243423042e-1
allele num: 6614
num of homozygotes: 45

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 1.697e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.037e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 3.227164e6

QD
type: SiteQuality
SIO_000300: 1.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
all individuals: 2120
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 927
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571783345383672e-5
allele num: 63622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

DP
type: SiteQuality
SIO_000300: 3.231741e6

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.215e0

GenotypeQuality
all individuals: 44460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.571783345383672e-5
allele num: 63622
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQRankSum
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SIO_000300: 1.68e-1

ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.61e-2

MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8650
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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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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Other
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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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Latino
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African
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.49902563333833e-5
allele num: 66710
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Other
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South Asian
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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
allele num: 6614
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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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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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.199832e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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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

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

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

African
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num of homozygotes: 0

Latino
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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QD
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Other
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele num: 66722
num of homozygotes: 0

East Asian
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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ReadPosRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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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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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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Other
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European (Non-Finnish)
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MQ
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
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Latino
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South Asian
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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QD
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DP
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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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European (Finnish)
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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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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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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DP
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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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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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Latino
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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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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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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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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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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MQ
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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DP
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FS
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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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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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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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African
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Latino
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South Asian
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European (Non-Finnish)
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QD
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46649
bin: 9.75e1
variant carriers: 889

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 41
allele frequency: 3.541198825358438e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.547274416374479e-4
allele num: 66738
num of homozygotes: 0

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

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

African
type: Population
allele count: 869
allele frequency: 8.352556708958093e-2
allele num: 10404
num of homozygotes: 41

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 3.259127e6

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 3306
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.75e-2

DP
type: SiteQuality
SIO_000300: 3.259127e6

QD
type: SiteQuality
SIO_000300: 1.416e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46371
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 3.202499e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

FS
type: SiteQuality
SIO_000300: 5.398e0

QD
type: SiteQuality
SIO_000300: 1.257e1

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

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

GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.202385e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

GenotypeQuality
all individuals: 2225
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46371
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.202743e6

FS
type: SiteQuality
SIO_000300: 2.445e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 1853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46370
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 3.202752e6

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 46396
bin: 9.75e1
variant carriers: 214

GenotypeQuality
all individuals: 2749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 212
allele frequency: 1.283914728682171e-2
allele num: 16512
num of homozygotes: 3

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

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 3.217831e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1853
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variant carriers: 0

GenotypeQuality
all individuals: 46360
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 3.206254e6

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2229
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.149e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

FS
type: SiteQuality
SIO_000300: 1.0674e1

DP
type: SiteQuality
SIO_000300: 3.205751e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2228
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variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.403e0

DP
type: SiteQuality
SIO_000300: 3.205719e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: -3.013e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.937e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 978
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.663e0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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DP
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QD
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VQSLOD
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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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variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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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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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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QD
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MQ
type: SiteQuality
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FS
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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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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Other
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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