14-70633493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633493
    reference: chr 14
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1647G>A
  hgvsp: ENST00000494208.1:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1647G>A
  hgvsp: ENST00000356921.2:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1647G>A
  hgvsp: ENST00000357887.3:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1647G>A
  hgvsp: ENST00000381269.2:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1647G>A
  hgvsp: ENST00000534137.1:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1647G>A
  hgvsp: ENST00000528359.1:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu549Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-70633494-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633494
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633494
    reference: chr 14
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1646A>C
  hgvsp: ENSP00000349392.2:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1646A>C
  hgvsp: ENSP00000433531.1:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1646A>C
  hgvsp: ENSP00000436688.1:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1646A>C
  hgvsp: ENSP00000436332.1:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1646A>C
  hgvsp: ENSP00000350560.3:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1646A>C
  hgvsp: ENSP00000370669.2:p.Glu549Ala
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu549Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-70633503-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633503
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633503
    reference: chr 14
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1637G>T
  hgvsp: ENSP00000436688.1:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1637G>T
  hgvsp: ENSP00000349392.2:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1637G>T
  hgvsp: ENSP00000433531.1:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1637G>T
  hgvsp: ENSP00000436332.1:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1637G>T
  hgvsp: ENSP00000370669.2:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1637G>T
  hgvsp: ENSP00000350560.3:p.Gly546Val
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly546Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-70633503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633503
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633503
    reference: chr 14
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1637G>A
  hgvsp: ENSP00000436688.1:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1637G>A
  hgvsp: ENSP00000370669.2:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1637G>A
  hgvsp: ENSP00000349392.2:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1637G>A
  hgvsp: ENSP00000433531.1:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1637G>A
  hgvsp: ENSP00000436332.1:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1637G>A
  hgvsp: ENSP00000350560.3:p.Gly546Asp
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly546Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-70633506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633506
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633506
    reference: chr 14
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1634T>C
  hgvsp: ENSP00000436688.1:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1634T>C
  hgvsp: ENSP00000436332.1:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1634T>C
  hgvsp: ENSP00000349392.2:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1634T>C
  hgvsp: ENSP00000350560.3:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1634T>C
  hgvsp: ENSP00000433531.1:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1634T>C
  hgvsp: ENSP00000370669.2:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile545Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

14-70633512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633512
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633512
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1628A>G
  hgvsp: ENSP00000436332.1:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1628A>G
  hgvsp: ENSP00000350560.3:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1628A>G
  hgvsp: ENSP00000433531.1:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1628A>G
  hgvsp: ENSP00000370669.2:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1628A>G
  hgvsp: ENSP00000436688.1:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1628A>G
  hgvsp: ENSP00000349392.2:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu543Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-70633526-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633526
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633526
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1614T>G
  hgvsp: ENST00000534137.1:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1614T>G
  hgvsp: ENST00000357887.3:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1614T>G
  hgvsp: ENST00000356921.2:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1614T>G
  hgvsp: ENST00000381269.2:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1614T>G
  hgvsp: ENST00000494208.1:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1614T>G
  hgvsp: ENST00000528359.1:c.1614T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr538Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

14-70633530-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633530
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633530
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1610A>G
  hgvsp: ENSP00000350560.3:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1610A>G
  hgvsp: ENSP00000433531.1:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1610A>G
  hgvsp: ENSP00000349392.2:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1610A>G
  hgvsp: ENSP00000436688.1:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1610A>G
  hgvsp: ENSP00000436332.1:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1610A>G
  hgvsp: ENSP00000370669.2:p.Asp537Gly
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp537Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-70633531-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633531
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633531
    reference: chr 14
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1609G>C
  hgvsp: ENSP00000349392.2:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1609G>C
  hgvsp: ENSP00000350560.3:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1609G>C
  hgvsp: ENSP00000436332.1:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1609G>C
  hgvsp: ENSP00000433531.1:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1609G>C
  hgvsp: ENSP00000436688.1:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1609G>C
  hgvsp: ENSP00000370669.2:p.Asp537His
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp537His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

14-70633547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633547
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633547
    reference: chr 14
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1593C>T
  hgvsp: ENST00000494208.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1593C>T
  hgvsp: ENST00000528359.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1593C>T
  hgvsp: ENST00000534137.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1593C>T
  hgvsp: ENST00000381269.2:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1593C>T
  hgvsp: ENST00000356921.2:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1593C>T
  hgvsp: ENST00000357887.3:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile531Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-70633550-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633550
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633550
    reference: chr 14
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1590C>A
  hgvsp: ENST00000357887.3:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1590C>A
  hgvsp: ENST00000356921.2:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1590C>A
  hgvsp: ENST00000381269.2:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1590C>A
  hgvsp: ENST00000494208.1:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1590C>A
  hgvsp: ENST00000534137.1:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1590C>A
  hgvsp: ENST00000528359.1:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly530Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

14-70633556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633556
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633556
    reference: chr 14
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1584T>C
  hgvsp: ENST00000356921.2:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1584T>C
  hgvsp: ENST00000381269.2:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1584T>C
  hgvsp: ENST00000534137.1:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1584T>C
  hgvsp: ENST00000494208.1:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1584T>C
  hgvsp: ENST00000528359.1:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1584T>C
  hgvsp: ENST00000357887.3:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His528His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-70633564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633564
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633564
    reference: chr 14
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1576G>C
  hgvsp: ENSP00000370669.2:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1576G>C
  hgvsp: ENSP00000436332.1:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1576G>C
  hgvsp: ENSP00000436688.1:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1576G>C
  hgvsp: ENSP00000349392.2:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1576G>C
  hgvsp: ENSP00000350560.3:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1576G>C
  hgvsp: ENSP00000433531.1:p.Asp526His
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  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: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp526His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-70633576-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633576
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633577
    reference: chr 14
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1563dupT
  hgvsp: ENSP00000433531.1:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1563dupT
  hgvsp: ENSP00000350560.3:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1563dupT
  hgvsp: ENSP00000349392.2:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1563dupT
  hgvsp: ENSP00000436688.1:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1563dupT
  hgvsp: ENSP00000370669.2:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1563dupT
  hgvsp: ENSP00000436332.1:p.Thr522TyrfsTer5
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17436
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr522TyrfsTer5
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

14-70633580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633580
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633580
    reference: chr 14
allele count: 7
allele frequency: 5.770055062811171e-5
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1560A>G
  hgvsp: ENST00000356921.2:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1560A>G
  hgvsp: ENST00000528359.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1560A>G
  hgvsp: ENST00000381269.2:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1560A>G
  hgvsp: ENST00000357887.3:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1560A>G
  hgvsp: ENST00000534137.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1560A>G
  hgvsp: ENST00000494208.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr520Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

14-70633590-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633590
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633590
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1550G>C
  hgvsp: ENSP00000350560.3:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1550G>C
  hgvsp: ENSP00000349392.2:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1550G>C
  hgvsp: ENSP00000433531.1:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1550G>C
  hgvsp: ENSP00000370669.2:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1550G>C
  hgvsp: ENSP00000436688.1:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1550G>C
  hgvsp: ENSP00000436332.1:p.Cys517Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys517Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-70633595-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633595
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633595
    reference: chr 14
allele count: 8
allele frequency: 6.595435958316844e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1545C>A
  hgvsp: ENST00000356921.2:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1545C>A
  hgvsp: ENST00000381269.2:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1545C>A
  hgvsp: ENST00000534137.1:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1545C>A
  hgvsp: ENST00000357887.3:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1545C>A
  hgvsp: ENST00000494208.1:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1545C>A
  hgvsp: ENST00000528359.1:c.1545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser515Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

14-70633598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633598
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633598
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1542C>T
  hgvsp: ENST00000534137.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1542C>T
  hgvsp: ENST00000357887.3:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1542C>T
  hgvsp: ENST00000528359.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1542C>T
  hgvsp: ENST00000381269.2:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1542C>T
  hgvsp: ENST00000494208.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1542C>T
  hgvsp: ENST00000356921.2:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala514Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-70633600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633600
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633600
    reference: chr 14
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1540G>A
  hgvsp: ENSP00000349392.2:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1540G>A
  hgvsp: ENSP00000433531.1:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1540G>A
  hgvsp: ENSP00000350560.3:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1540G>A
  hgvsp: ENSP00000436688.1:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1540G>A
  hgvsp: ENSP00000436332.1:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1540G>A
  hgvsp: ENSP00000370669.2:p.Ala514Thr
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala514Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

14-70633605-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633605
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633605
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1535T>A
  hgvsp: ENSP00000350560.3:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1535T>A
  hgvsp: ENSP00000436688.1:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1535T>A
  hgvsp: ENSP00000436332.1:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1535T>A
  hgvsp: ENSP00000370669.2:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1535T>A
  hgvsp: ENSP00000349392.2:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1535T>A
  hgvsp: ENSP00000433531.1:p.Val512Asp
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val512Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

14-70633606-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633606
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633606
    reference: chr 14
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1534G>C
  hgvsp: ENSP00000370669.2:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1534G>C
  hgvsp: ENSP00000350560.3:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1534G>C
  hgvsp: ENSP00000436332.1:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1534G>C
  hgvsp: ENSP00000436688.1:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1534G>C
  hgvsp: ENSP00000433531.1:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1534G>C
  hgvsp: ENSP00000349392.2:p.Val512Leu
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val512Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

14-70633611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633611
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633611
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1529G>A
  hgvsp: ENSP00000436332.1:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1529G>A
  hgvsp: ENSP00000350560.3:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1529G>A
  hgvsp: ENSP00000349392.2:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1529G>A
  hgvsp: ENSP00000436688.1:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1529G>A
  hgvsp: ENSP00000370669.2:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1529G>A
  hgvsp: ENSP00000433531.1:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg510Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

14-70633612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633612
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633612
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1528C>T
  hgvsp: ENSP00000436688.1:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1528C>T
  hgvsp: ENSP00000436332.1:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1528C>T
  hgvsp: ENSP00000350560.3:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1528C>T
  hgvsp: ENSP00000370669.2:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1528C>T
  hgvsp: ENSP00000349392.2:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1528C>T
  hgvsp: ENSP00000433531.1:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg510Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/14-70633616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633616
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633616
    reference: chr 14
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1524G>T
  hgvsp: ENSP00000349392.2:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1524G>T
  hgvsp: ENSP00000433531.1:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1524G>T
  hgvsp: ENSP00000350560.3:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1524G>T
  hgvsp: ENSP00000370669.2:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1524G>T
  hgvsp: ENSP00000436332.1:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1524G>T
  hgvsp: ENSP00000436688.1:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu508Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

14-70633624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633624
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633624
    reference: chr 14
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1516C>T
  hgvsp: ENSP00000370669.2:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1516C>T
  hgvsp: ENSP00000349392.2:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1516C>T
  hgvsp: ENSP00000436332.1:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1516C>T
  hgvsp: ENSP00000436688.1:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1516C>T
  hgvsp: ENSP00000433531.1:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1516C>T
  hgvsp: ENSP00000350560.3:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13360
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu506Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-70633637-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633637
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633637
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1503A>C
  hgvsp: ENST00000528359.1:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1503A>C
  hgvsp: ENST00000494208.1:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1503A>C
  hgvsp: ENST00000534137.1:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1503A>C
  hgvsp: ENST00000357887.3:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1503A>C
  hgvsp: ENST00000381269.2:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1503A>C
  hgvsp: ENST00000356921.2:c.1503A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala501Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

14-70633638-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633638
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633638
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1502C>A
  hgvsp: ENSP00000436688.1:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1502C>A
  hgvsp: ENSP00000433531.1:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1502C>A
  hgvsp: ENSP00000436332.1:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1502C>A
  hgvsp: ENSP00000370669.2:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1502C>A
  hgvsp: ENSP00000350560.3:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1502C>A
  hgvsp: ENSP00000349392.2:p.Ala501Glu
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala501Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-70633642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633642
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633642
    reference: chr 14
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1498C>T
  hgvsp: ENSP00000350560.3:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1498C>T
  hgvsp: ENSP00000436332.1:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1498C>T
  hgvsp: ENSP00000433531.1:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1498C>T
  hgvsp: ENSP00000370669.2:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1498C>T
  hgvsp: ENSP00000436688.1:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1498C>T
  hgvsp: ENSP00000349392.2:p.Pro500Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro500Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

14-70633649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633649
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633649
    reference: chr 14
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1491G>A
  hgvsp: ENST00000357887.3:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1491G>A
  hgvsp: ENST00000494208.1:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1491G>A
  hgvsp: ENST00000534137.1:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1491G>A
  hgvsp: ENST00000356921.2:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1491G>A
  hgvsp: ENST00000381269.2:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1491G>A
  hgvsp: ENST00000528359.1:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly497Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

14-70633655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633655
    reference: chr 14
allele count: 3
allele frequency: 2.473043822336532e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1485G>A
  hgvsp: ENST00000381269.2:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1485G>A
  hgvsp: ENST00000534137.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1485G>A
  hgvsp: ENST00000528359.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1485G>A
  hgvsp: ENST00000356921.2:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1485G>A
  hgvsp: ENST00000494208.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1485G>A
  hgvsp: ENST00000357887.3:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu495Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

14-70633664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633664
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633664
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1476G>A
  hgvsp: ENST00000357887.3:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1476G>A
  hgvsp: ENST00000494208.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1476G>A
  hgvsp: ENST00000381269.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1476G>A
  hgvsp: ENST00000528359.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1476G>A
  hgvsp: ENST00000534137.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1476G>A
  hgvsp: ENST00000356921.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu492Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

14-70633667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633667
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633667
    reference: chr 14
allele count: 5
allele frequency: 4.121196135966503e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1473G>A
  hgvsp: ENST00000356921.2:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1473G>A
  hgvsp: ENST00000528359.1:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1473G>A
  hgvsp: ENST00000534137.1:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1473G>A
  hgvsp: ENST00000357887.3:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1473G>A
  hgvsp: ENST00000494208.1:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1473G>A
  hgvsp: ENST00000381269.2:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16877
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu491Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-70633673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633673
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633673
    reference: chr 14
allele count: 14
allele frequency: 1.153896874587894e-4
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1467A>G
  hgvsp: ENSP00000436688.1:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1467A>G
  hgvsp: ENSP00000349392.2:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1467A>G
  hgvsp: ENSP00000350560.3:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1467A>G
  hgvsp: ENSP00000370669.2:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1467A>G
  hgvsp: ENSP00000436332.1:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1467A>G
  hgvsp: ENSP00000433531.1:p.Ile489Met
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile489Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-70633675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633675
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633675
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1465A>G
  hgvsp: ENSP00000436332.1:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1465A>G
  hgvsp: ENSP00000350560.3:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1465A>G
  hgvsp: ENSP00000436688.1:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1465A>G
  hgvsp: ENSP00000433531.1:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1465A>G
  hgvsp: ENSP00000349392.2:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1465A>G
  hgvsp: ENSP00000370669.2:p.Ile489Val
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile489Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

14-70633676-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633676
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633676
    reference: chr 14
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1464C>A
  hgvsp: ENST00000356921.2:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1464C>A
  hgvsp: ENST00000381269.2:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1464C>A
  hgvsp: ENST00000357887.3:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1464C>A
  hgvsp: ENST00000528359.1:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1464C>A
  hgvsp: ENST00000494208.1:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1464C>A
  hgvsp: ENST00000534137.1:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg488Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-70633677-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633677
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633677
    reference: chr 14
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1463G>T
  hgvsp: ENSP00000349392.2:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1463G>T
  hgvsp: ENSP00000436688.1:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1463G>T
  hgvsp: ENSP00000350560.3:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1463G>T
  hgvsp: ENSP00000433531.1:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1463G>T
  hgvsp: ENSP00000370669.2:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1463G>T
  hgvsp: ENSP00000436332.1:p.Arg488Leu
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg488Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-70633677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633677
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633677
    reference: chr 14
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1463G>C
  hgvsp: ENSP00000436332.1:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1463G>C
  hgvsp: ENSP00000370669.2:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1463G>C
  hgvsp: ENSP00000349392.2:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1463G>C
  hgvsp: ENSP00000350560.3:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1463G>C
  hgvsp: ENSP00000436688.1:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1463G>C
  hgvsp: ENSP00000433531.1:p.Arg488Pro
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg488Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

14-70633678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633678
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633678
    reference: chr 14
allele count: 58
allele frequency: 4.781375717206357e-4
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1462C>T
  hgvsp: ENSP00000350560.3:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1462C>T
  hgvsp: ENSP00000433531.1:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1462C>T
  hgvsp: ENSP00000349392.2:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1462C>T
  hgvsp: ENSP00000436688.1:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1462C>T
  hgvsp: ENSP00000370669.2:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1462C>T
  hgvsp: ENSP00000436332.1:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg488Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-70633682-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633682
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633682
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1458T>A
  hgvsp: ENSP00000436332.1:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1458T>A
  hgvsp: ENSP00000436688.1:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1458T>A
  hgvsp: ENSP00000370669.2:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1458T>A
  hgvsp: ENSP00000350560.3:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1458T>A
  hgvsp: ENSP00000433531.1:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1458T>A
  hgvsp: ENSP00000349392.2:p.Asn486Lys
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn486Lys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

14-70633683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633683
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633683
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1457A>G
  hgvsp: ENSP00000370669.2:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1457A>G
  hgvsp: ENSP00000436688.1:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1457A>G
  hgvsp: ENSP00000433531.1:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1457A>G
  hgvsp: ENSP00000349392.2:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1457A>G
  hgvsp: ENSP00000350560.3:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1457A>G
  hgvsp: ENSP00000436332.1:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn486Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-70633695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633695
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633695
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1445T>C
  hgvsp: ENSP00000433531.1:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1445T>C
  hgvsp: ENSP00000436688.1:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1445T>C
  hgvsp: ENSP00000350560.3:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1445T>C
  hgvsp: ENSP00000370669.2:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1445T>C
  hgvsp: ENSP00000436332.1:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1445T>C
  hgvsp: ENSP00000349392.2:p.Val482Ala
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13419
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val482Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

14-70633700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633700
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633700
    reference: chr 14
allele count: 151
allele frequency: 1.244580716416926e-3
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1440C>T
  hgvsp: ENST00000356921.2:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1440C>T
  hgvsp: ENST00000357887.3:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1440C>T
  hgvsp: ENST00000381269.2:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1440C>T
  hgvsp: ENST00000528359.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1440C>T
  hgvsp: ENST00000534137.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1440C>T
  hgvsp: ENST00000494208.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13527
  bin: 9.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe480Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

14-70633701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633701
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633701
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1439T>C
  hgvsp: ENSP00000433531.1:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1439T>C
  hgvsp: ENSP00000436332.1:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1439T>C
  hgvsp: ENSP00000350560.3:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1439T>C
  hgvsp: ENSP00000370669.2:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1439T>C
  hgvsp: ENSP00000436688.1:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1439T>C
  hgvsp: ENSP00000349392.2:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe480Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-70633705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633705
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633705
    reference: chr 14
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1435C>T
  hgvsp: ENSP00000433531.1:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1435C>T
  hgvsp: ENSP00000350560.3:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1435C>T
  hgvsp: ENSP00000349392.2:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1435C>T
  hgvsp: ENSP00000370669.2:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1435C>T
  hgvsp: ENSP00000436332.1:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1435C>T
  hgvsp: ENSP00000436688.1:p.His479Tyr
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13523
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His479Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-70633706-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633706
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633706
    reference: chr 14
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1434A>T
  hgvsp: ENSP00000433531.1:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1434A>T
  hgvsp: ENSP00000436688.1:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1434A>T
  hgvsp: ENSP00000349392.2:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1434A>T
  hgvsp: ENSP00000370669.2:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1434A>T
  hgvsp: ENSP00000350560.3:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1434A>T
  hgvsp: ENSP00000436332.1:p.Glu478Asp
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu478Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-70633727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633727
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633727
    reference: chr 14
allele count: 9
allele frequency: 7.419498441905327e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1413C>T
  hgvsp: ENST00000528359.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1413C>T
  hgvsp: ENST00000356921.2:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1413C>T
  hgvsp: ENST00000357887.3:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1413C>T
  hgvsp: ENST00000494208.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1413C>T
  hgvsp: ENST00000381269.2:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1413C>T
  hgvsp: ENST00000534137.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp471Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-70633733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633733
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633733
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1407T>C
  hgvsp: ENST00000534137.1:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1407T>C
  hgvsp: ENST00000528359.1:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1407T>C
  hgvsp: ENST00000356921.2:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1407T>C
  hgvsp: ENST00000357887.3:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1407T>C
  hgvsp: ENST00000381269.2:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1407T>C
  hgvsp: ENST00000494208.1:c.1407T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile469Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

14-70633739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633739
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633739
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1401C>T
  hgvsp: ENST00000528359.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1401C>T
  hgvsp: ENST00000381269.2:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1401C>T
  hgvsp: ENST00000534137.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1401C>T
  hgvsp: ENST00000357887.3:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1401C>T
  hgvsp: ENST00000356921.2:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1401C>T
  hgvsp: ENST00000494208.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly467Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/14-70633744-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633744
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1396G>T
  hgvsp: ENSP00000436688.1:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1396G>T
  hgvsp: ENSP00000370669.2:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1396G>T
  hgvsp: ENSP00000349392.2:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1396G>T
  hgvsp: ENSP00000436332.1:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1396G>T
  hgvsp: ENSP00000433531.1:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1396G>T
  hgvsp: ENSP00000350560.3:p.Val466Leu
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val466Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-70633744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633744
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1396G>A
  hgvsp: ENSP00000350560.3:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1396G>A
  hgvsp: ENSP00000436688.1:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1396G>A
  hgvsp: ENSP00000349392.2:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1396G>A
  hgvsp: ENSP00000370669.2:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1396G>A
  hgvsp: ENSP00000436332.1:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1396G>A
  hgvsp: ENSP00000433531.1:p.Val466Met
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val466Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-70633745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633745
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633745
    reference: chr 14
allele count: 6
allele frequency: 4.946740098275237e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1395C>T
  hgvsp: ENST00000494208.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1395C>T
  hgvsp: ENST00000534137.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1395C>T
  hgvsp: ENST00000357887.3:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1395C>T
  hgvsp: ENST00000356921.2:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1395C>T
  hgvsp: ENST00000528359.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1395C>T
  hgvsp: ENST00000381269.2:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17162
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser465Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-70633751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633751
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633751
    reference: chr 14
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1389G>A
  hgvsp: ENST00000528359.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1389G>A
  hgvsp: ENST00000494208.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1389G>A
  hgvsp: ENST00000356921.2:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1389G>A
  hgvsp: ENST00000381269.2:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1389G>A
  hgvsp: ENST00000357887.3:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1389G>A
  hgvsp: ENST00000534137.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13542
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu463Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

14-70633757-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633757
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633757
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1383G>C
  hgvsp: ENSP00000350560.3:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1383G>C
  hgvsp: ENSP00000436332.1:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1383G>C
  hgvsp: ENSP00000433531.1:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1383G>C
  hgvsp: ENSP00000436688.1:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1383G>C
  hgvsp: ENSP00000370669.2:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1383G>C
  hgvsp: ENSP00000349392.2:p.Gln461His
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln461His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-70633767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633767
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633767
    reference: chr 14
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1373G>A
  hgvsp: ENSP00000433531.1:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1373G>A
  hgvsp: ENSP00000436688.1:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1373G>A
  hgvsp: ENSP00000349392.2:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1373G>A
  hgvsp: ENSP00000370669.2:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1373G>A
  hgvsp: ENSP00000350560.3:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1373G>A
  hgvsp: ENSP00000436332.1:p.Gly458Glu
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly458Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

14-70633768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633768
    reference: chr 14
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1372G>A
  hgvsp: ENSP00000370669.2:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1372G>A
  hgvsp: ENSP00000436688.1:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1372G>A
  hgvsp: ENSP00000349392.2:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1372G>A
  hgvsp: ENSP00000436332.1:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1372G>A
  hgvsp: ENSP00000350560.3:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1372G>A
  hgvsp: ENSP00000433531.1:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly458Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-70633784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633784
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633784
    reference: chr 14
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1356G>A
  hgvsp: ENST00000381269.2:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1356G>A
  hgvsp: ENST00000357887.3:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1356G>A
  hgvsp: ENST00000534137.1:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1356G>A
  hgvsp: ENST00000528359.1:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1356G>A
  hgvsp: ENST00000494208.1:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1356G>A
  hgvsp: ENST00000356921.2:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13552
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr452Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

14-70633785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633785
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633785
    reference: chr 14
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1355C>T
  hgvsp: ENSP00000349392.2:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1355C>T
  hgvsp: ENSP00000433531.1:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1355C>T
  hgvsp: ENSP00000350560.3:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1355C>T
  hgvsp: ENSP00000370669.2:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1355C>T
  hgvsp: ENSP00000436332.1:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1355C>T
  hgvsp: ENSP00000436688.1:p.Thr452Met
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13557
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr452Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-70633787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633787
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633787
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1353C>T
  hgvsp: ENST00000357887.3:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1353C>T
  hgvsp: ENST00000356921.2:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1353C>T
  hgvsp: ENST00000381269.2:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1353C>T
  hgvsp: ENST00000494208.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1353C>T
  hgvsp: ENST00000528359.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1353C>T
  hgvsp: ENST00000534137.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13559
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly451Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

14-70633818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633818
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633818
    reference: chr 14
allele count: 147
allele frequency: 1.211771494518177e-3
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1322A>G
  hgvsp: ENSP00000436332.1:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1322A>G
  hgvsp: ENSP00000349392.2:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1322A>G
  hgvsp: ENSP00000436688.1:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1322A>G
  hgvsp: ENSP00000350560.3:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1322A>G
  hgvsp: ENSP00000370669.2:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1322A>G
  hgvsp: ENSP00000433531.1:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13674
  bin: 9.75e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn441Ser
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-70633842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633842
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633842
    reference: chr 14
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1298A>G
  hgvsp: ENSP00000436332.1:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1298A>G
  hgvsp: ENSP00000370669.2:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1298A>G
  hgvsp: ENSP00000436688.1:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1298A>G
  hgvsp: ENSP00000350560.3:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1298A>G
  hgvsp: ENSP00000433531.1:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1298A>G
  hgvsp: ENSP00000349392.2:p.Tyr433Cys
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13673
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr433Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-70633846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633846
    reference: chr 14
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1294G>T
  hgvsp: ENSP00000349392.2:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1294G>T
  hgvsp: ENSP00000370669.2:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1294G>T
  hgvsp: ENSP00000436332.1:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1294G>T
  hgvsp: ENSP00000350560.3:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1294G>T
  hgvsp: ENSP00000436688.1:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1294G>T
  hgvsp: ENSP00000433531.1:p.Asp432Tyr
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp432Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-70633856-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633856
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633856
    reference: chr 14
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1284C>G
  hgvsp: ENST00000356921.2:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1284C>G
  hgvsp: ENST00000357887.3:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1284C>G
  hgvsp: ENST00000534137.1:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1284C>G
  hgvsp: ENST00000528359.1:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1284C>G
  hgvsp: ENST00000494208.1:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1284C>G
  hgvsp: ENST00000381269.2:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr428Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

14-70633858-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633858
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633858
    reference: chr 14
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1282A>G
  hgvsp: ENSP00000436688.1:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1282A>G
  hgvsp: ENSP00000436332.1:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1282A>G
  hgvsp: ENSP00000433531.1:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1282A>G
  hgvsp: ENSP00000370669.2:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1282A>G
  hgvsp: ENSP00000349392.2:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1282A>G
  hgvsp: ENSP00000350560.3:p.Thr428Ala
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr428Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-70633859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633859
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633859
    reference: chr 14
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1281G>T
  hgvsp: ENSP00000436688.1:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1281G>T
  hgvsp: ENSP00000370669.2:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1281G>T
  hgvsp: ENSP00000433531.1:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1281G>T
  hgvsp: ENSP00000436332.1:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1281G>T
  hgvsp: ENSP00000350560.3:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1281G>T
  hgvsp: ENSP00000349392.2:p.Lys427Asn
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys427Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

14-70633874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633874
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633874
    reference: chr 14
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1266G>A
  hgvsp: ENST00000381269.2:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1266G>A
  hgvsp: ENST00000357887.3:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1266G>A
  hgvsp: ENST00000528359.1:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1266G>A
  hgvsp: ENST00000356921.2:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1266G>A
  hgvsp: ENST00000494208.1:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1266G>A
  hgvsp: ENST00000534137.1:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  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: 3612
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  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
hgvs: p.Gly422Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

14-70633885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633885
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633885
    reference: chr 14
allele count: 98
allele frequency: 8.072620636254304e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1255G>A
  hgvsp: ENSP00000436688.1:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1255G>A
  hgvsp: ENSP00000350560.3:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1255G>A
  hgvsp: ENSP00000370669.2:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1255G>A
  hgvsp: ENSP00000349392.2:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1255G>A
  hgvsp: ENSP00000436332.1:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1255G>A
  hgvsp: ENSP00000433531.1:p.Val419Met
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13784
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val419Met
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

14-70633890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633890
    reference: chr 14
allele count: 21
allele frequency: 1.7298757784441e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1250C>T
  hgvsp: ENSP00000350560.3:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1250C>T
  hgvsp: ENSP00000436332.1:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1250C>T
  hgvsp: ENSP00000433531.1:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1250C>T
  hgvsp: ENSP00000370669.2:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1250C>T
  hgvsp: ENSP00000436688.1:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1250C>T
  hgvsp: ENSP00000349392.2:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13799
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr417Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-70633901-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633901
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633901
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1239T>A
  hgvsp: ENST00000528359.1:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1239T>A
  hgvsp: ENST00000534137.1:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1239T>A
  hgvsp: ENST00000381269.2:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1239T>A
  hgvsp: ENST00000494208.1:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1239T>A
  hgvsp: ENST00000357887.3:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1239T>A
  hgvsp: ENST00000356921.2:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
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: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala413Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-70633903-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633903
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633903
    reference: chr 14
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1237G>T
  hgvsp: ENSP00000350560.3:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1237G>T
  hgvsp: ENSP00000436332.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1237G>T
  hgvsp: ENSP00000433531.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1237G>T
  hgvsp: ENSP00000436688.1:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1237G>T
  hgvsp: ENSP00000349392.2:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1237G>T
  hgvsp: ENSP00000370669.2:p.Ala413Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala413Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-70633913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633913
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633913
    reference: chr 14
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1227G>A
  hgvsp: ENST00000528359.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1227G>A
  hgvsp: ENST00000356921.2:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1227G>A
  hgvsp: ENST00000357887.3:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1227G>A
  hgvsp: ENST00000381269.2:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1227G>A
  hgvsp: ENST00000534137.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1227G>A
  hgvsp: ENST00000494208.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu409Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-70633934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633934
    reference: chr 14
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1206A>G
  hgvsp: ENST00000528359.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1206A>G
  hgvsp: ENST00000381269.2:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1206A>G
  hgvsp: ENST00000357887.3:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1206A>G
  hgvsp: ENST00000356921.2:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1206A>G
  hgvsp: ENST00000534137.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1206A>G
  hgvsp: ENST00000494208.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro402Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-70633936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633936
    reference: chr 14
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1204C>T
  hgvsp: ENSP00000436332.1:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1204C>T
  hgvsp: ENSP00000349392.2:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1204C>T
  hgvsp: ENSP00000433531.1:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1204C>T
  hgvsp: ENSP00000436688.1:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1204C>T
  hgvsp: ENSP00000350560.3:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1204C>T
  hgvsp: ENSP00000370669.2:p.Pro402Ser
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro402Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-70633937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70633937
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70633937
    reference: chr 14
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: ENSG00000100678
  ensembl protein: ENSP00000436332
  ensembl transcript: ENST00000494208
  gene symbol: SLC8A3
  hgvsc: ENST00000494208.1:c.1203C>T
  hgvsp: ENST00000494208.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000350560
  ensembl transcript: ENST00000357887
  gene symbol: SLC8A3
  hgvsc: ENST00000357887.3:c.1203C>T
  hgvsp: ENST00000357887.3:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000433531
  ensembl transcript: ENST00000528359
  gene symbol: SLC8A3
  hgvsc: ENST00000528359.1:c.1203C>T
  hgvsp: ENST00000528359.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000370669
  ensembl transcript: ENST00000381269
  gene symbol: SLC8A3
  hgvsc: ENST00000381269.2:c.1203C>T
  hgvsp: ENST00000381269.2:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000349392
  ensembl transcript: ENST00000356921
  gene symbol: SLC8A3
  hgvsc: ENST00000356921.2:c.1203C>T
  hgvsp: ENST00000356921.2:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100678
  ensembl protein: ENSP00000436688
  ensembl transcript: ENST00000534137
  gene symbol: SLC8A3
  hgvsc: ENST00000534137.1:c.1203C>T
  hgvsp: ENST00000534137.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11070
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp401Asp
num of homozygotes: 0
reference allele: G

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

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

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

GenotypeQuality
all individuals: 4259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13237
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.943678e6

FS
type: SiteQuality
SIO_000300: 4.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.465e1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 5138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17951
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13239
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.717e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 7.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.104e0

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

DP
type: SiteQuality
SIO_000300: 1.943811e6

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7840
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13244
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 0
allele frequency: 0.0e0
allele num: 11550
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: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.943868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 5137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17900
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13244
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.943868e6

QD
type: SiteQuality
SIO_000300: 1.124e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

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

GenotypeQuality
all individuals: 13245
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 7850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16510
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: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.943892e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4267
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 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: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.37e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.943848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
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: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.406e0

FS
type: SiteQuality
SIO_000300: 1.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: -5.694e-1

DP
type: SiteQuality
SIO_000300: 1.943698e6

QD
type: SiteQuality
SIO_000300: 1.695e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.474e1

DP
type: SiteQuality
SIO_000300: 1.943709e6

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

FS
type: SiteQuality
SIO_000300: 4.538e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

DP
type: SiteQuality
SIO_000300: 1.94377e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.944537e6

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

DP
type: SiteQuality
SIO_000300: 1.944756e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

FS
type: SiteQuality
SIO_000300: 1.0442e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.287e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.750999999999999e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.655e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.703e0

DP
type: SiteQuality
SIO_000300: 1.945287e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.959e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13273
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 5.881e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.815e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.946012e6

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

GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.333e0

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

South Asian
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allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.225e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.947021e6

MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

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

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

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

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2717
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199868014518403e-4
allele num: 66674
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.894e0

FS
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.947451e6

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17257
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.947169e6

MQ
type: SiteQuality
SIO_000300: 5.702e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

QD
type: SiteQuality
SIO_000300: 1.661e1

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5958
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GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 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: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.469e0

DP
type: SiteQuality
SIO_000300: 1.947045e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

FS
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 1.947297e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13333
bin: 9.75e1
variant carriers: 2

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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 904
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: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 1.947241e6

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2733
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.982e0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.472e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

DP
type: SiteQuality
SIO_000300: 1.947605e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4264
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.500585076059888e-5
allele num: 66658
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.943e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 9.260999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -1.143e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 1.947921e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 4.816e0

BaseQRankSum
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SIO_000300: -2.571e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Finnish)
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allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17124
bin: 6.25e1
variant carriers: 0

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

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

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

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: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.584e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.948579e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 8648
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.948318e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.245e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.948154e6

FS
type: SiteQuality
SIO_000300: 7.183e0

VQSLOD
type: SiteQuality
SIO_000300: -9.607e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.851e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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)
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allele count: 3
allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.623e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.177e0

BaseQRankSum
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SIO_000300: -1.793e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.9475e6

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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: 10384
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.801e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.017e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.946986e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 16510
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: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498500299940011e-5
allele num: 66680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.947032e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.487e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
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

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

African
type: Population
allele count: 13
allele frequency: 1.251926040061633e-3
allele num: 10384
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.947144e6

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16885
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.127e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.832e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2740
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 2.881e0

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7762
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 1.947496e6

FS
type: SiteQuality
SIO_000300: 2.881e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
all individuals: 5221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13425
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 3620
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.300063000630006e-4
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
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: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

FS
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.954435e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

GenotypeQuality
all individuals: 7766
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2738
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5224
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 2.058e0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 1.951337e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5226
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
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: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.324e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.459e0

DP
type: SiteQuality
SIO_000300: 1.951244e6

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

GenotypeQuality
all individuals: 5999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5223
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.176e1

DP
type: SiteQuality
SIO_000300: 1.951692e6

MQ
type: SiteQuality
SIO_000300: 5.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

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

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.773284030506125e-3
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: 116
allele frequency: 1.001900155467265e-2
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.777007510109763e-4
allele num: 10386
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.446e0

FS
type: SiteQuality
SIO_000300: 1.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 1.978956e6

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13522
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5213
bin: 8.25e1
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

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: 1.499880009599232e-5
allele num: 66672
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: 10386
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: -2.204e0

VQSLOD
type: SiteQuality
SIO_000300: -3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e0

FS
type: SiteQuality
SIO_000300: 2.0188e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.961464e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.566e1

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

GenotypeQuality
all individuals: 3605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.848e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.625e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 1.962032e6

GenotypeQuality
all individuals: 7770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13526
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 7.25e1
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

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: 10384
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: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.962574e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 4.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13534
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 5208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 7.25e1
variant carriers: 0

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

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

European (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: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.963392e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 13534
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5972
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 5.974e0

MQRankSum
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SIO_000300: 1.18e0

InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 2.62e0

ClippingRankSum
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SIO_000300: 1.66e-1

VQSLOD
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SIO_000300: -4.482e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.962321e6

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 2.85e-1

MQ
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SIO_000300: 5.971e1

FS
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
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allele frequency: 1.500645277469312e-5
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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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

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

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

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

East Asian
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Other
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South Asian
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allele num: 16508
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African
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -9.64e-1

BaseQRankSum
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

African
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Latino
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South Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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Latino
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Other
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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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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

Other
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Latino
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East Asian
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African
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South Asian
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MQ
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SIO_000300: 5.991e1

FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.964183e6

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.218e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5212
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.713e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -1.859e0

DP
type: SiteQuality
SIO_000300: 1.964197e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.154999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 3600
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 5995
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 61
allele frequency: 9.225650332728373e-3
allele num: 6612
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 84
allele frequency: 1.25997480050399e-3
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.986961e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.582e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7781
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997361161089121e-5
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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

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: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

DP
type: SiteQuality
SIO_000300: 1.976716e6

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.130000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.69e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 6011
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

DP
type: SiteQuality
SIO_000300: 1.976835e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.188e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.166e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.015e0

QD
type: SiteQuality
SIO_000300: 1.092e1

FS
type: SiteQuality
SIO_000300: 7.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.977356e6

GenotypeQuality
all individuals: 17312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13685
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5219
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 2
allele frequency: 2.311604253351826e-4
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: -1.41e-1

FS
type: SiteQuality
SIO_000300: 4.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.977573e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

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

GenotypeQuality
all individuals: 2728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3606
bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: -7.449e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.842e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.26e0

FS
type: SiteQuality
SIO_000300: 6.552e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.182e0

DP
type: SiteQuality
SIO_000300: 1.977558e6

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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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13691
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 10406
num of homozygotes: 0

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

European (Finnish)
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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

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

FS
type: SiteQuality
SIO_000300: 2.064e0

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.978066e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3609
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GenotypeQuality
all individuals: 5225
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 94
allele frequency: 5.692829457364341e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e0

DP
type: SiteQuality
SIO_000300: 1.986384e6

FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3609
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GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.948090870946472e-4
allele num: 66732
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.985623e6

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.649e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

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

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

GenotypeQuality
all individuals: 5223
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 9.25e1
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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.984936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.672e-1

FS
type: SiteQuality
SIO_000300: 3.119e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

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

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

GenotypeQuality
all individuals: 4259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
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: 66736
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 1.984925e6

FS
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

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

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

GenotypeQuality
all individuals: 3609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5224
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.5264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.229e0

QD
type: SiteQuality
SIO_000300: 1.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.984998e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.384e0

VQSLOD
type: SiteQuality
SIO_000300: -2.249e0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13804
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 5223
bin: 8.25e1
variant carriers: 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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

DP
type: SiteQuality
SIO_000300: 1.98506e6

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

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

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

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

GenotypeQuality
all individuals: 6017
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13806
bin: 9.75e1
variant carriers: 1

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: 11570
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: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 3.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 1.984982e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.475e1