22-40042636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042636
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042636
    reference: chr 22
allele count: 1
allele frequency: 3.688675765400221e-5
allele num: 27110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1212C>T
  hgvsp: ENST00000407673.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1212C>T
  hgvsp: ENST00000404898.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1212C>T
  hgvsp: ENST00000336649.4:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1212C>T
  hgvsp: ENST00000400164.3:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1212C>T
  hgvsp: ENST00000401624.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1212C>T
  hgvsp: ENST00000402142.3:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr404Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-40042651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042651
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042651
    reference: chr 22
allele count: 1
allele frequency: 3.568879371877231e-5
allele num: 28020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1227C>A
  hgvsp: ENSP00000385019.3:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1227C>A
  hgvsp: ENSP00000383887.1:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1227C>A
  hgvsp: ENSP00000385680.1:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1227C>A
  hgvsp: ENSP00000383028.3:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1227C>A
  hgvsp: ENSP00000384093.1:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1227C>A
  hgvsp: ENSP00000337829.4:p.His409Gln
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His409Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

22-40042651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042651
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042651
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 28020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1227C>T
  hgvsp: ENST00000407673.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1227C>T
  hgvsp: ENST00000402142.3:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1227C>T
  hgvsp: ENST00000336649.4:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1227C>T
  hgvsp: ENST00000401624.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1227C>T
  hgvsp: ENST00000400164.3:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1227C>T
  hgvsp: ENST00000404898.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26133
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
hgvs: p.His409His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

22-40042653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042653
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042653
    reference: chr 22
allele count: 1
allele frequency: 3.538069629210303e-5
allele num: 28264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1229G>A
  hgvsp: ENSP00000385019.3:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1229G>A
  hgvsp: ENSP00000385680.1:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1229G>A
  hgvsp: ENSP00000383028.3:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1229G>A
  hgvsp: ENSP00000384093.1:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1229G>A
  hgvsp: ENSP00000337829.4:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1229G>A
  hgvsp: ENSP00000383887.1:p.Arg410Gln
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg410Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-40042658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042658
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042658
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 28986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1234A>G
  hgvsp: ENSP00000385680.1:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1234A>G
  hgvsp: ENSP00000384093.1:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1234A>G
  hgvsp: ENSP00000385019.3:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1234A>G
  hgvsp: ENSP00000383028.3:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1234A>G
  hgvsp: ENSP00000383887.1:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1234A>G
  hgvsp: ENSP00000337829.4:p.Met412Val
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27970
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met412Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

22-40042671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042671
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042671
    reference: chr 22
allele count: 1
allele frequency: 3.325131342688036e-5
allele num: 30074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1247G>A
  hgvsp: ENSP00000384093.1:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1247G>A
  hgvsp: ENSP00000337829.4:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1247G>A
  hgvsp: ENSP00000385680.1:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1247G>A
  hgvsp: ENSP00000383028.3:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1247G>A
  hgvsp: ENSP00000385019.3:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1247G>A
  hgvsp: ENSP00000383887.1:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg416Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

22-40042678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042678
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042678
    reference: chr 22
allele count: 2
allele frequency: 6.382842918235782e-5
allele num: 31334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1254C>T
  hgvsp: ENST00000407673.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1254C>T
  hgvsp: ENST00000400164.3:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1254C>T
  hgvsp: ENST00000402142.3:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1254C>T
  hgvsp: ENST00000336649.4:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1254C>T
  hgvsp: ENST00000401624.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1254C>T
  hgvsp: ENST00000404898.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33431
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg418Arg
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: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

22-40042693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042693
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042693
    reference: chr 22
allele count: 1
allele frequency: 2.927571871889455e-5
allele num: 34158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1269C>T
  hgvsp: ENST00000336649.4:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1269C>T
  hgvsp: ENST00000400164.3:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1269C>T
  hgvsp: ENST00000404898.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1269C>T
  hgvsp: ENST00000401624.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1269C>T
  hgvsp: ENST00000402142.3:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1269C>T
  hgvsp: ENST00000407673.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser423Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-40042696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042696
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042696
    reference: chr 22
allele count: 7
allele frequency: 2.006650613461759e-4
allele num: 34884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1272G>A
  hgvsp: ENST00000404898.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1272G>A
  hgvsp: ENST00000400164.3:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1272G>A
  hgvsp: ENST00000401624.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1272G>A
  hgvsp: ENST00000336649.4:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1272G>A
  hgvsp: ENST00000402142.3:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1272G>A
  hgvsp: ENST00000407673.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34315
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33255
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

22-40042708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042708
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042708
    reference: chr 22
allele count: 3
allele frequency: 7.843957538043194e-5
allele num: 38246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1284C>T
  hgvsp: ENST00000404898.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1284C>T
  hgvsp: ENST00000402142.3:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1284C>T
  hgvsp: ENST00000401624.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1284C>T
  hgvsp: ENST00000336649.4:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1284C>T
  hgvsp: ENST00000407673.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1284C>T
  hgvsp: ENST00000400164.3:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34185
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr428Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

22-40042709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042709
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042709
    reference: chr 22
allele count: 2
allele frequency: 5.233136218535768e-5
allele num: 38218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1285G>A
  hgvsp: ENSP00000383887.1:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1285G>A
  hgvsp: ENSP00000385019.3:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1285G>A
  hgvsp: ENSP00000385680.1:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1285G>A
  hgvsp: ENSP00000384093.1:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1285G>A
  hgvsp: ENSP00000383028.3:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1285G>A
  hgvsp: ENSP00000337829.4:p.Ala429Thr
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34122
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala429Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-40042711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042711
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042711
    reference: chr 22
allele count: 10
allele frequency: 2.571222873598684e-4
allele num: 38892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1287C>A
  hgvsp: ENST00000336649.4:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1287C>A
  hgvsp: ENST00000407673.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1287C>A
  hgvsp: ENST00000400164.3:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1287C>A
  hgvsp: ENST00000404898.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1287C>A
  hgvsp: ENST00000402142.3:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1287C>A
  hgvsp: ENST00000401624.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34092
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala429Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

22-40042711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042711
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042711
    reference: chr 22
allele count: 16
allele frequency: 4.113956597757893e-4
allele num: 38892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1287C>T
  hgvsp: ENST00000402142.3:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1287C>T
  hgvsp: ENST00000407673.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1287C>T
  hgvsp: ENST00000401624.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1287C>T
  hgvsp: ENST00000404898.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1287C>T
  hgvsp: ENST00000336649.4:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1287C>T
  hgvsp: ENST00000400164.3:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34092
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala429Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

22-40042712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042712
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042712
    reference: chr 22
allele count: 1
allele frequency: 2.535625538820427e-5
allele num: 39438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1288G>A
  hgvsp: ENSP00000337829.4:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1288G>A
  hgvsp: ENSP00000385019.3:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1288G>A
  hgvsp: ENSP00000383028.3:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1288G>A
  hgvsp: ENSP00000384093.1:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1288G>A
  hgvsp: ENSP00000383887.1:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1288G>A
  hgvsp: ENSP00000385680.1:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu430Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

22-40042714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042714
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042714
    reference: chr 22
allele count: 1
allele frequency: 2.494387627837366e-5
allele num: 40090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1290G>A
  hgvsp: ENST00000407673.1:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1290G>A
  hgvsp: ENST00000400164.3:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1290G>A
  hgvsp: ENST00000401624.1:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1290G>A
  hgvsp: ENST00000404898.1:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1290G>A
  hgvsp: ENST00000402142.3:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1290G>A
  hgvsp: ENST00000336649.4:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu430Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

22-40042720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042720
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042720
    reference: chr 22
allele count: 689
allele frequency: 1.669412676875363e-2
allele num: 41272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1296C>T
  hgvsp: ENST00000402142.3:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1296C>T
  hgvsp: ENST00000336649.4:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1296C>T
  hgvsp: ENST00000407673.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1296C>T
  hgvsp: ENST00000401624.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1296C>T
  hgvsp: ENST00000400164.3:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1296C>T
  hgvsp: ENST00000404898.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.25e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 33293
  bin: 7.5e0
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 2.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33511
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 3
hgvs: p.Gly432Gly
num of homozygotes: 6
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

22-40042723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042723
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042723
    reference: chr 22
allele count: 21
allele frequency: 5.023202411137157e-4
allele num: 41806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1299C>T
  hgvsp: ENST00000336649.4:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1299C>T
  hgvsp: ENST00000404898.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1299C>T
  hgvsp: ENST00000401624.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1299C>T
  hgvsp: ENST00000402142.3:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1299C>T
  hgvsp: ENST00000400164.3:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1299C>T
  hgvsp: ENST00000407673.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33488
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp433Asp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

22-40042726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042726
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042726
    reference: chr 22
allele count: 1
allele frequency: 2.375861249703017e-5
allele num: 42090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1302C>T
  hgvsp: ENST00000401624.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1302C>T
  hgvsp: ENST00000407673.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1302C>T
  hgvsp: ENST00000400164.3:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1302C>T
  hgvsp: ENST00000336649.4:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1302C>T
  hgvsp: ENST00000404898.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1302C>T
  hgvsp: ENST00000402142.3:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys434Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

22-40042729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042729
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042729
    reference: chr 22
allele count: 3
allele frequency: 7.076806944706549e-5
allele num: 42392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1305C>T
  hgvsp: ENST00000400164.3:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1305C>T
  hgvsp: ENST00000336649.4:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1305C>T
  hgvsp: ENST00000407673.1:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1305C>T
  hgvsp: ENST00000402142.3:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1305C>T
  hgvsp: ENST00000401624.1:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1305C>T
  hgvsp: ENST00000404898.1:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr435Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

22-40042729-CGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042729
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042726
    reference: chr 22
allele count: 1
allele frequency: 2.358935648235516e-5
allele num: 42392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1309_1311delGAG
  hgvsp: ENSP00000383887.1:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1309_1311delGAG
  hgvsp: ENSP00000384093.1:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1309_1311delGAG
  hgvsp: ENSP00000337829.4:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1309_1311delGAG
  hgvsp: ENSP00000383028.3:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1309_1311delGAG
  hgvsp: ENSP00000385019.3:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1309_1311delGAG
  hgvsp: ENSP00000385680.1:p.Glu437del
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu437del
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: CGAG
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

22-40042731-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042731
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042731
    reference: chr 22
allele count: 3
allele frequency: 7.009673349221926e-5
allele num: 42798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1307A>G
  hgvsp: ENSP00000383887.1:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1307A>G
  hgvsp: ENSP00000383028.3:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1307A>G
  hgvsp: ENSP00000385680.1:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1307A>G
  hgvsp: ENSP00000385019.3:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1307A>G
  hgvsp: ENSP00000384093.1:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1307A>G
  hgvsp: ENSP00000337829.4:p.Glu436Gly
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu436Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

22-40042735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042735
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042735
    reference: chr 22
allele count: 1
allele frequency: 2.335575485799701e-5
allele num: 42816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1311G>A
  hgvsp: ENST00000336649.4:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1311G>A
  hgvsp: ENST00000401624.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1311G>A
  hgvsp: ENST00000400164.3:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1311G>A
  hgvsp: ENST00000404898.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1311G>A
  hgvsp: ENST00000407673.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1311G>A
  hgvsp: ENST00000402142.3:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12132
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu437Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

22-40042737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042737
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042737
    reference: chr 22
allele count: 47
allele frequency: 1.094754495481226e-3
allele num: 42932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1313T>C
  hgvsp: ENSP00000337829.4:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1313T>C
  hgvsp: ENSP00000385680.1:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1313T>C
  hgvsp: ENSP00000383028.3:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1313T>C
  hgvsp: ENSP00000384093.1:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1313T>C
  hgvsp: ENSP00000383887.1:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1313T>C
  hgvsp: ENSP00000385019.3:p.Ile438Thr
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32888
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile438Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-40042738-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042738
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042738
    reference: chr 22
allele count: 1
allele frequency: 2.328397131414734e-5
allele num: 42948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1314C>A
  hgvsp: ENST00000400164.3:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1314C>A
  hgvsp: ENST00000407673.1:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1314C>A
  hgvsp: ENST00000401624.1:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1314C>A
  hgvsp: ENST00000336649.4:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1314C>A
  hgvsp: ENST00000402142.3:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1314C>A
  hgvsp: ENST00000404898.1:c.1314C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile438Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

22-40042756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042756
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042756
    reference: chr 22
allele count: 1
allele frequency: 2.481759070829404e-5
allele num: 40294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1332C>T
  hgvsp: ENST00000404898.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1332C>T
  hgvsp: ENST00000407673.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1332C>T
  hgvsp: ENST00000336649.4:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1332C>T
  hgvsp: ENST00000401624.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1332C>T
  hgvsp: ENST00000402142.3:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1332C>T
  hgvsp: ENST00000400164.3:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9005
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His444His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

22-40042764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042764
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042764
    reference: chr 22
allele count: 2
allele frequency: 5.394034198176816e-5
allele num: 37078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1340G>A
  hgvsp: ENSP00000383028.3:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1340G>A
  hgvsp: ENSP00000385680.1:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1340G>A
  hgvsp: ENSP00000385019.3:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1340G>A
  hgvsp: ENSP00000383887.1:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1340G>A
  hgvsp: ENSP00000384093.1:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1340G>A
  hgvsp: ENSP00000337829.4:p.Arg447His
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg447His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

22-40042766-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042766
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042766
    reference: chr 22
allele count: 1
allele frequency: 2.656606981563148e-5
allele num: 37642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1342A>G
  hgvsp: ENSP00000383028.3:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1342A>G
  hgvsp: ENSP00000385019.3:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1342A>G
  hgvsp: ENSP00000384093.1:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1342A>G
  hgvsp: ENSP00000385680.1:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1342A>G
  hgvsp: ENSP00000383887.1:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1342A>G
  hgvsp: ENSP00000337829.4:p.Lys448Glu
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys448Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

22-40042778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042778
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042778
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 31050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1354C>T
  hgvsp: ENSP00000383028.3:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1354C>T
  hgvsp: ENSP00000385680.1:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1354C>T
  hgvsp: ENSP00000385019.3:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1354C>T
  hgvsp: ENSP00000383887.1:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1354C>T
  hgvsp: ENSP00000384093.1:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1354C>T
  hgvsp: ENSP00000337829.4:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25545
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg452Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-40042779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042779
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042779
    reference: chr 22
allele count: 4
allele frequency: 1.333600053344002e-4
allele num: 29994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1355G>A
  hgvsp: ENSP00000385680.1:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1355G>A
  hgvsp: ENSP00000383887.1:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1355G>A
  hgvsp: ENSP00000337829.4:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1355G>A
  hgvsp: ENSP00000385019.3:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1355G>A
  hgvsp: ENSP00000384093.1:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1355G>A
  hgvsp: ENSP00000383028.3:p.Arg452His
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24888
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg452His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-40042780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042780
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042780
    reference: chr 22
allele count: 5
allele frequency: 1.678866429386878e-4
allele num: 29782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1356C>T
  hgvsp: ENST00000407673.1:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1356C>T
  hgvsp: ENST00000402142.3:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1356C>T
  hgvsp: ENST00000404898.1:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1356C>T
  hgvsp: ENST00000336649.4:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1356C>T
  hgvsp: ENST00000400164.3:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1356C>T
  hgvsp: ENST00000401624.1:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24674
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg452Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

22-40042781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042781
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042781
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 28918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1357G>A
  hgvsp: ENSP00000385019.3:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1357G>A
  hgvsp: ENSP00000385680.1:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1357G>A
  hgvsp: ENSP00000383887.1:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1357G>A
  hgvsp: ENSP00000337829.4:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1357G>A
  hgvsp: ENSP00000383028.3:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1357G>A
  hgvsp: ENSP00000384093.1:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24530
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala453Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

22-40042788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042788
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042788
    reference: chr 22
allele count: 2
allele frequency: 7.777259293824856e-5
allele num: 25716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1364G>A
  hgvsp: ENSP00000385680.1:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1364G>A
  hgvsp: ENSP00000383028.3:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1364G>A
  hgvsp: ENSP00000337829.4:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1364G>A
  hgvsp: ENSP00000384093.1:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1364G>A
  hgvsp: ENSP00000383887.1:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1364G>A
  hgvsp: ENSP00000385019.3:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly455Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

22-40042794-ACCAGGCCCTGCAGAGCCGGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042794
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042773
    reference: chr 22
allele count: 2
allele frequency: 8.45880561664693e-5
allele num: 23644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsp: ENSP00000383887.1:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsp: ENSP00000337829.4:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsp: ENSP00000385680.1:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsp: ENSP00000384093.1:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsp: ENSP00000385019.3:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsp: ENSP00000383028.3:p.Gln461_Leu467del
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19562
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln461_Leu467del
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: ACCAGGCCCTGCAGAGCCGGCG
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

22-40042812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042812
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042812
    reference: chr 22
allele count: 1
allele frequency: 6.991051454138702e-5
allele num: 14304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1388G>A
  hgvsp: ENSP00000384093.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1388G>A
  hgvsp: ENSP00000385019.3:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1388G>A
  hgvsp: ENSP00000383887.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1388G>A
  hgvsp: ENSP00000383028.3:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1388G>A
  hgvsp: ENSP00000385680.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1388G>A
  hgvsp: ENSP00000337829.4:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg463Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

22-40042813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042813
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042813
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 14094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1389G>A
  hgvsp: ENST00000400164.3:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1389G>A
  hgvsp: ENST00000401624.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1389G>A
  hgvsp: ENST00000407673.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1389G>A
  hgvsp: ENST00000402142.3:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1389G>A
  hgvsp: ENST00000336649.4:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1389G>A
  hgvsp: ENST00000404898.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34351
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg463Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

22-40042814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042814
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042814
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 13894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1390C>T
  hgvsp: ENSP00000383887.1:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1390C>T
  hgvsp: ENSP00000383028.3:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1390C>T
  hgvsp: ENSP00000385019.3:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1390C>T
  hgvsp: ENSP00000385680.1:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1390C>T
  hgvsp: ENSP00000384093.1:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1390C>T
  hgvsp: ENSP00000337829.4:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34446
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg464Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

22-40042821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042821
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042821
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 12428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1397C>T
  hgvsp: ENSP00000385680.1:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1397C>T
  hgvsp: ENSP00000383887.1:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1397C>T
  hgvsp: ENSP00000384093.1:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1397C>T
  hgvsp: ENSP00000337829.4:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1397C>T
  hgvsp: ENSP00000385019.3:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1397C>T
  hgvsp: ENSP00000383028.3:p.Ala466Val
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33835
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala466Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

22-40042830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042830
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042830
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 10574
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1406C>T
  hgvsp: ENSP00000385019.3:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1406C>T
  hgvsp: ENSP00000383887.1:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1406C>T
  hgvsp: ENSP00000337829.4:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1406C>T
  hgvsp: ENSP00000385680.1:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1406C>T
  hgvsp: ENSP00000383028.3:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1406C>T
  hgvsp: ENSP00000384093.1:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro469Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

22-40042831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042831
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042831
    reference: chr 22
allele count: 4
allele frequency: 3.739016638624042e-4
allele num: 10698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1407G>A
  hgvsp: ENST00000407673.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1407G>A
  hgvsp: ENST00000401624.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1407G>A
  hgvsp: ENST00000404898.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1407G>A
  hgvsp: ENST00000402142.3:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1407G>A
  hgvsp: ENST00000336649.4:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1407G>A
  hgvsp: ENST00000400164.3:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34522
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31874
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro469Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-40042840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042840
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042840
    reference: chr 22
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1416G>A
  hgvsp: ENST00000402142.3:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1416G>A
  hgvsp: ENST00000401624.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1416G>A
  hgvsp: ENST00000400164.3:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1416G>A
  hgvsp: ENST00000407673.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1416G>A
  hgvsp: ENST00000404898.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1416G>A
  hgvsp: ENST00000336649.4:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro472Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

22-40042840-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042840
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042840
    reference: chr 22
allele count: 4
allele frequency: 4.11522633744856e-4
allele num: 9720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1416G>T
  hgvsp: ENST00000407673.1:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1416G>T
  hgvsp: ENST00000400164.3:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1416G>T
  hgvsp: ENST00000404898.1:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1416G>T
  hgvsp: ENST00000401624.1:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1416G>T
  hgvsp: ENST00000402142.3:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1416G>T
  hgvsp: ENST00000336649.4:c.1416G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34451
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31674
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro472Pro
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

22-40042842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042842
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042842
    reference: chr 22
allele count: 3
allele frequency: 3.151260504201681e-4
allele num: 9520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1418C>T
  hgvsp: ENSP00000383028.3:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1418C>T
  hgvsp: ENSP00000337829.4:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1418C>T
  hgvsp: ENSP00000384093.1:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1418C>T
  hgvsp: ENSP00000385019.3:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1418C>T
  hgvsp: ENSP00000383887.1:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1418C>T
  hgvsp: ENSP00000385680.1:p.Ala473Val
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala473Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

22-40042846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042846
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042846
    reference: chr 22
allele count: 1
allele frequency: 1.088613106901807e-4
allele num: 9186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1422C>T
  hgvsp: ENST00000401624.1:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1422C>T
  hgvsp: ENST00000404898.1:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1422C>T
  hgvsp: ENST00000407673.1:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1422C>T
  hgvsp: ENST00000336649.4:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1422C>T
  hgvsp: ENST00000402142.3:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1422C>T
  hgvsp: ENST00000400164.3:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34545
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32542
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro474Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

22-40042878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042878
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042878
    reference: chr 22
allele count: 5
allele frequency: 8.84016973125884e-4
allele num: 5656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1454G>A
  hgvsp: ENSP00000337829.4:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1454G>A
  hgvsp: ENSP00000385680.1:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1454G>A
  hgvsp: ENSP00000383028.3:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1454G>A
  hgvsp: ENSP00000384093.1:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1454G>A
  hgvsp: ENSP00000385019.3:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1454G>A
  hgvsp: ENSP00000383887.1:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31813
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Arg485Gln
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

22-40042881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042881
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042881
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 5432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1457A>G
  hgvsp: ENSP00000383028.3:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1457A>G
  hgvsp: ENSP00000383887.1:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1457A>G
  hgvsp: ENSP00000337829.4:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1457A>G
  hgvsp: ENSP00000385019.3:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1457A>G
  hgvsp: ENSP00000385680.1:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1457A>G
  hgvsp: ENSP00000384093.1:p.His486Arg
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31504
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His486Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

22-40042904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042904
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042904
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 2764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+18C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-40042909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042909
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042909
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 2420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+23C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

22-40042910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042910
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042910
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 2128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+24G>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

22-40042925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40042925
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40042925
    reference: chr 22
allele count: 1
allele frequency: 6.067961165048543e-4
allele num: 1648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+39C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

22-40043781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043781
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043781
    reference: chr 22
allele count: 1
allele frequency: 8.413825598223e-6
allele num: 118852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-46C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+895C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-46C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-46C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+895C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+895C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

22-40043782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043782
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043782
    reference: chr 22
allele count: 3
allele frequency: 2.521983287657414e-5
allele num: 118954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+896G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+896G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+896G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-45G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-45G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-45G>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8937
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

22-40043793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043793
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043793
    reference: chr 22
allele count: 20
allele frequency: 1.675715530531537e-4
allele num: 119352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-34G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-34G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+907G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+907G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+907G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-34G>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-40043795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043795
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043795
    reference: chr 22
allele count: 2
allele frequency: 1.673836265336525e-5
allele num: 119486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-32G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-32G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-32G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+909G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+909G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+909G>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

22-40043809-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043809
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043809
    reference: chr 22
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-18A>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-18A>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+923A>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-18A>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+923A>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+923A>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

22-40043810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043810
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043810
    reference: chr 22
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-17T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+924T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-17T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-17T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+924T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+924T>C
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

22-40043812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043812
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043812
    reference: chr 22
allele count: 56306
allele frequency: 4.681010258882995e-1
allele num: 120286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+926A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-15A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-15A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+926A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+926A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-15A>G
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 5.75e1
  variant carriers: 4204
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.25e1
  variant carriers: 4141
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 2898
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 3.75e1
  variant carriers: 3367
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.25e1
  variant carriers: 4581
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.25e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.25e1
  variant carriers: 1373
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.25e1
  variant carriers: 3585
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.75e1
  variant carriers: 1853
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 2336
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 2.75e1
  variant carriers: 1391
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 4.75e1
  variant carriers: 4653
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 2281
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 8.75e1
  variant carriers: 1163
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.25e1
  variant carriers: 847
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 2260
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 14500
  bin: 6.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 4
num of homozygotes: 14277
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

22-40043817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043817
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043817
    reference: chr 22
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+931C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+931C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+931C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-10C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-10C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-10C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

22-40043824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043824
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043824
    reference: chr 22
allele count: 27
allele frequency: 2.24163124335813e-4
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1463-3C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+938C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+938C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+938C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1463-3C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1463-3C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16045
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45694
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1463-3C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

22-40043831-GAAGACT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043831
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043825
    reference: chr 22
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+949_1462+954delACTAAG
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+949_1462+954delACTAAG
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1471_1476delACTAAG
  hgvsp: ENSP00000385019.3:p.Thr491_Lys492del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1471_1476delACTAAG
  hgvsp: ENSP00000383887.1:p.Thr491_Lys492del
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+949_1462+954delACTAAG
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1471_1476delACTAAG
  hgvsp: ENSP00000337829.4:p.Thr491_Lys492del
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr491_Lys492del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: GAAGACT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

22-40043837-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043837
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043837
    reference: chr 22
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1473T>A
  hgvsp: ENST00000402142.3:c.1473T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1473T>A
  hgvsp: ENST00000401624.1:c.1473T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+951T>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+951T>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1473T>A
  hgvsp: ENST00000336649.4:c.1473T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+951T>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr491Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

22-40043840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043840
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043840
    reference: chr 22
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+954G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+954G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+954G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1476G>A
  hgvsp: ENST00000402142.3:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1476G>A
  hgvsp: ENST00000401624.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1476G>A
  hgvsp: ENST00000336649.4:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys492Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

22-40043848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043848
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043848
    reference: chr 22
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+962G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1484G>A
  hgvsp: ENSP00000337829.4:p.Gly495Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1484G>A
  hgvsp: ENSP00000385019.3:p.Gly495Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+962G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+962G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1484G>A
  hgvsp: ENSP00000383887.1:p.Gly495Glu
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly495Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

22-40043855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043855
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043855
    reference: chr 22
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1491A>G
  hgvsp: ENST00000336649.4:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+969A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+969A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1491A>G
  hgvsp: ENST00000402142.3:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+969A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1491A>G
  hgvsp: ENST00000401624.1:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu497Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

22-40043863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043863
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043863
    reference: chr 22
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1499A>G
  hgvsp: ENSP00000385019.3:p.His500Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+977A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1499A>G
  hgvsp: ENSP00000383887.1:p.His500Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+977A>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1499A>G
  hgvsp: ENSP00000337829.4:p.His500Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+977A>G
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His500Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

22-40043867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043867
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043867
    reference: chr 22
allele count: 300
allele frequency: 2.491115023084333e-3
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+981C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1503C>T
  hgvsp: ENST00000401624.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1503C>T
  hgvsp: ENST00000402142.3:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1503C>T
  hgvsp: ENST00000336649.4:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+981C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+981C>T
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 30045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8224
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu501Leu
num of homozygotes: 6
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

22-40043868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043868
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043868
    reference: chr 22
allele count: 2
allele frequency: 1.660798511924533e-5
allele num: 120424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1504G>A
  hgvsp: ENSP00000337829.4:p.Gly502Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1504G>A
  hgvsp: ENSP00000383887.1:p.Gly502Arg
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+982G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+982G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+982G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1504G>A
  hgvsp: ENSP00000385019.3:p.Gly502Arg
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly502Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

22-40043874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043874
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043874
    reference: chr 22
allele count: 23
allele frequency: 1.910299003322259e-4
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1510C>T
  hgvsp: ENSP00000383887.1:p.Arg504Trp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1510C>T
  hgvsp: ENSP00000385019.3:p.Arg504Trp
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+988C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+988C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+988C>T
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1510C>T
  hgvsp: ENSP00000337829.4:p.Arg504Trp
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg504Trp
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: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/22-40043877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043877
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043877
    reference: chr 22
allele count: 499
allele frequency: 4.145344586960856e-3
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+991C>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+991C>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1513C>A
  hgvsp: ENSP00000385019.3:p.His505Asn
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1513C>A
  hgvsp: ENSP00000383887.1:p.His505Asn
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+991C>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1513C>A
  hgvsp: ENSP00000337829.4:p.His505Asn
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 30146
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.75e1
  variant carriers: 497
hgvs: p.His505Asn
num of homozygotes: 3
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

22-40043891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043891
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043891
    reference: chr 22
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+1005G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+1005G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1527G>A
  hgvsp: ENST00000401624.1:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1527G>A
  hgvsp: ENST00000336649.4:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1527G>A
  hgvsp: ENST00000402142.3:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+1005G>A
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu509Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

22-40043897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043897
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043897
    reference: chr 22
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1533G>A
  hgvsp: ENST00000336649.4:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+1011G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+1011G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+1011G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1533G>A
  hgvsp: ENST00000401624.1:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1533G>A
  hgvsp: ENST00000402142.3:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly511Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

22-40043904-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043904
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043904
    reference: chr 22
allele count: 3
allele frequency: 2.502293769288514e-5
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1540T>G
  hgvsp: ENSP00000337829.4:p.Ser514Ala
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1540T>G
  hgvsp: ENSP00000385019.3:p.Ser514Ala
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+1018T>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+1018T>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+1018T>G
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1540T>G
  hgvsp: ENSP00000383887.1:p.Ser514Ala
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser514Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

22-40043909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043909
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043909
    reference: chr 22
allele count: 21
allele frequency: 1.753536298201373e-4
allele num: 119758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+1023T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1545T>C
  hgvsp: ENST00000336649.4:c.1545T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1545T>C
  hgvsp: ENST00000402142.3:c.1545T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+1023T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+1023T>C
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1545T>C
  hgvsp: ENST00000401624.1:c.1545T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30185
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro515Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

22-40043911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40043911
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 40043911
    reference: chr 22
allele count: 15
allele frequency: 1.253007217321572e-4
allele num: 119712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385680
  ensembl transcript: ENST00000407673
  gene symbol: CACNA1I
  hgvsc: ENST00000407673.1:c.1462+1025G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000337829
  ensembl transcript: ENST00000336649
  gene symbol: CACNA1I
  hgvsc: ENST00000336649.4:c.1547G>A
  hgvsp: ENSP00000337829.4:p.Gly516Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383028
  ensembl transcript: ENST00000400164
  gene symbol: CACNA1I
  hgvsc: ENST00000400164.3:c.1462+1025G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000384093
  ensembl transcript: ENST00000404898
  gene symbol: CACNA1I
  hgvsc: ENST00000404898.1:c.1462+1025G>A
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000383887
  ensembl transcript: ENST00000401624
  gene symbol: CACNA1I
  hgvsc: ENST00000401624.1:c.1547G>A
  hgvsp: ENSP00000383887.1:p.Gly516Glu
  variant of: http://identifiers.org/hgnc/1396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100346
  ensembl protein: ENSP00000385019
  ensembl transcript: ENST00000402142
  gene symbol: CACNA1I
  hgvsc: ENST00000402142.3:c.1547G>A
  hgvsp: ENSP00000385019.3:p.Gly516Glu
  variant of: http://identifiers.org/hgnc/1396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly516Glu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.272912423625254e-4
allele num: 7856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 5.4369e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -6.206e-1

GenotypeQuality
all individuals: 14355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7218
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.419498441905327e-5
allele num: 13478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 1.594e0

QD
type: SiteQuality
SIO_000300: 1.305e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.53513e5

GenotypeQuality
all individuals: 2957
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.594e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

DP
type: SiteQuality
SIO_000300: 5.53513e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 1045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.342143906020558e-5
allele num: 13620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.5686e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 1118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.63578e5

QD
type: SiteQuality
SIO_000300: 1.704e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29037
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.851192107426693e-5
allele num: 14596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 5.76393e5

FS
type: SiteQuality
SIO_000300: 6.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.753e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7913
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.301574905635819e-4
allele num: 15366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.624e-1

FS
type: SiteQuality
SIO_000300: 1.0833e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 5.8925e5

GenotypeQuality
all individuals: 8711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32566
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17064
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.147842056932966e-4
allele num: 8712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.007e1

VQSLOD
type: SiteQuality
SIO_000300: -1.572e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

FS
type: SiteQuality
SIO_000300: 7.675e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

DP
type: SiteQuality
SIO_000300: 6.20356e5

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 9224
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 4.807692307692308e-4
allele num: 2080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.830601092896175e-4
allele num: 2928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.711937913718329e-4
allele num: 17524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.140771161305042e-4
allele num: 8766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.29519e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1163
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.313452617627568e-4
allele num: 9054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 1.984e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 6.60221e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33762
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.210921954455008e-4
allele num: 9046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 6.60707e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

FS
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 928
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 8.278145695364238e-4
allele num: 2416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.913265306122449e-3
allele num: 3136
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.575757575757576e-4
allele num: 2640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

DP
type: SiteQuality
SIO_000300: 6.67437e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 928
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.75e1
variant carriers: 17

African
type: Population
allele count: 14
allele frequency: 4.464285714285714e-3
allele num: 3136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.575757575757576e-4
allele num: 2640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 6.67437e5

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11292
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1507
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.094570928196147e-4
allele num: 9136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 6.72424e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 5.021e0

QD
type: SiteQuality
SIO_000300: 1.056e1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.859558752065312e-5
allele num: 20578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

DP
type: SiteQuality
SIO_000300: 6.7719e5

FS
type: SiteQuality
SIO_000300: 7.16e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 902
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2081
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 10750
bin: 6.25e1
variant carriers: 19

GenotypeQuality
all individuals: 641
bin: 9.75e1
variant carriers: 611

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 32

GenotypeQuality
all individuals: 730
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 27

European (Non-Finnish)
type: Population
allele count: 543
allele frequency: 2.540469729577992e-2
allele num: 21374
num of homozygotes: 4

Other
type: Population
allele count: 3
allele frequency: 9.375e-3
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 1.702685003274394e-2
allele num: 3054
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 24
allele frequency: 1.630434782608696e-2
allele num: 1472
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 3.409795412275264e-3
allele num: 3226
num of homozygotes: 0

South Asian
type: Population
allele count: 56
allele frequency: 6.076388888888889e-3
allele num: 9216
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 6.88471e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11629
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.041362530413625e-4
allele num: 3288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 7.326007326007326e-3
allele num: 2730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.84128e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.593055300385817e-5
allele num: 21772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 6.85627e5

VQSLOD
type: SiteQuality
SIO_000300: -9.63e-1

QD
type: SiteQuality
SIO_000300: 5.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5567
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.561211457763182e-5
allele num: 21924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.992220227408737e-4
allele num: 3342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.071811361200429e-4
allele num: 9330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.269e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 6.88096e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3184
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.992220227408737e-4
allele num: 3342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 3.269e0

DP
type: SiteQuality
SIO_000300: 6.88096e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.352569882777277e-4
allele num: 22180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

DP
type: SiteQuality
SIO_000300: 6.88586e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 285
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.999400119976005e-4
allele num: 3334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 6.87691e5

VQSLOD
type: SiteQuality
SIO_000300: -2.067e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 125
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11815
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 2.066672657022194e-3
allele num: 22258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.990430622009569e-4
allele num: 3344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.84491e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeQuality
all individuals: 1162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.488733279468534e-5
allele num: 22278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -3.176e0

DP
type: SiteQuality
SIO_000300: 6.86392e5

MQ
type: SiteQuality
SIO_000300: 5.77e1

FS
type: SiteQuality
SIO_000300: 1.837e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.216e0

QD
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.083188908145581e-4
allele num: 9232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 8.129e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

DP
type: SiteQuality
SIO_000300: 6.33394e5

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 7173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 8.382229673093043e-4
allele num: 2386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

DP
type: SiteQuality
SIO_000300: 5.88846e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.923e0

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.346e0

QD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.103509159126021e-4
allele num: 9062
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

DP
type: SiteQuality
SIO_000300: 5.86934e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 5.08758e5

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

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

GenotypeQuality
all individuals: 544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.846299810246679e-3
allele num: 1054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.018528916339136e-5
allele num: 14248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.6e-3

FS
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 4.99766e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19645
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 543
bin: 6.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 101
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.53456807578114e-4
allele num: 14146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.304999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 3.065e0

DP
type: SiteQuality
SIO_000300: 4.9434e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 8.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

GenotypeQuality
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.099e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 5.37e0

DP
type: SiteQuality
SIO_000300: 4.93595e5

GenotypeQuality
all individuals: 71
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.395209580838323e-4
allele num: 8350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 1.007e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

DP
type: SiteQuality
SIO_000300: 4.50219e5

QD
type: SiteQuality
SIO_000300: 1.096e1

VQSLOD
type: SiteQuality
SIO_000300: -9.432e-1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 7.173601147776184e-4
allele num: 1394
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 4.24465e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.484e0

MQ
type: SiteQuality
SIO_000300: 4.987e1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

QD
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.327316166710911e-4
allele num: 7534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.017e0

VQSLOD
type: SiteQuality
SIO_000300: -1.781e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.13582e5

QD
type: SiteQuality
SIO_000300: 1.215e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.0978e5

GenotypeQuality
all individuals: 1669
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33559
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.3e-1

DP
type: SiteQuality
SIO_000300: 3.07045e5

FS
type: SiteQuality
SIO_000300: 3.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.896e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.80978e5

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.89e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.43906e5

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 230
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.501950585175553e-4
allele num: 3076
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.044140030441401e-4
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 6.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.796e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.44152e5

GenotypeQuality
all individuals: 207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.43e-2

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 2.25622e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.25e-2
allele num: 320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.43e-2

FS
type: SiteQuality
SIO_000300: 5.08e-1

DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
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VQSLOD
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SIO_000300: 3.17e0

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: 4.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 5.006675567423231e-4
allele num: 5992
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.75e0

QD
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SIO_000300: 1.143e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 2.23743e5

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.866976024748647e-4
allele num: 2586
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.48e-2

QD
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SIO_000300: 1.456e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.395e0

DP
type: SiteQuality
SIO_000300: 2.18077e5

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

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

South Asian
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allele count: 5
allele frequency: 1.528117359413203e-3
allele num: 3272
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.039999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.54994e5

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1736
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 1.50396e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.089999999999999e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1176
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.009e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

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

GenotypeQuality
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bin: 4.75e1
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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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.008064516129032e-3
allele num: 992
num of homozygotes: 0

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

African
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
type: Population
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DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.344116268166901e-4
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.146281499692685e-5
allele num: 16270
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 1.637893e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9036
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519618271890101e-5
allele num: 65806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.163787823104251e-3
allele num: 16326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.678e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.693837e6

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 9044
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 4293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.818e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 7.992e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.7013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.777e1

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.737e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.728804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.728e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.737e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.793e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.729479e6

VQSLOD
type: SiteQuality
SIO_000300: -4.307e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

FS
type: SiteQuality
SIO_000300: 2.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

GenotypeQuality
all individuals: 2146
bin: 6.75e1
variant carriers: 122

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 93

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 48

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 176

GenotypeQuality
all individuals: 40791
bin: 9.75e1
variant carriers: 40660

Other
type: Population
allele count: 411
allele frequency: 4.587053571428572e-1
allele num: 896
num of homozygotes: 106

European (Non-Finnish)
type: Population
allele count: 26384
allele frequency: 3.97361366306214e-1
allele num: 66398
num of homozygotes: 5269

South Asian
type: Population
allele count: 7482
allele frequency: 4.541702075998543e-1
allele num: 16474
num of homozygotes: 1747

East Asian
type: Population
allele count: 7621
allele frequency: 8.85339219330855e-1
allele num: 8608
num of homozygotes: 3376

Latino
type: Population
allele count: 6407
allele frequency: 5.553918169209431e-1
allele num: 11536
num of homozygotes: 1799

African
type: Population
allele count: 4966
allele frequency: 5.083947583947583e-1
allele num: 9768
num of homozygotes: 1268

European (Finnish)
type: Population
allele count: 3035
allele frequency: 4.594308204662428e-1
allele num: 6606
num of homozygotes: 712

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 2.874343e6

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 2.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

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

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

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8218
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
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: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.643886e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

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

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 986
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.760755761477827e-4
allele num: 66476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.645579e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8236
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

FS
type: SiteQuality
SIO_000300: 1.0702e1

QD
type: SiteQuality
SIO_000300: 5.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.644872e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.914e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 11562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
SIO_000300: 1.645155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 6.737e0

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.281e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

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

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

GenotypeQuality
all individuals: 8244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 7.75e1
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: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 8616
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.645263e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

VQSLOD
type: SiteQuality
SIO_000300: -2.212e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 2.561e1

FS
type: SiteQuality
SIO_000300: 4.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 8616
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -7.848000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.64523e6

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.388e0

QD
type: SiteQuality
SIO_000300: 1.875e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 8616
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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

FS
type: SiteQuality
SIO_000300: 6.625e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.645141e6

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1889
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

FS
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 1.644881e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 292

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

GenotypeQuality
all individuals: 1883
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
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: 8616
num of homozygotes: 0

African
type: Population
allele count: 274
allele frequency: 2.807377049180328e-2
allele num: 9760
num of homozygotes: 6

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

Latino
type: Population
allele count: 16
allele frequency: 1.384322547153487e-3
allele num: 11558
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: 10
allele frequency: 1.504392827055001e-4
allele num: 66472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 1.65186e6

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46088
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.912e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.82e0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

DP
type: SiteQuality
SIO_000300: 1.637545e6

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 18
allele frequency: 1.844262295081967e-3
allele num: 9760
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.637786e6

QD
type: SiteQuality
SIO_000300: 9.4e0

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 431
allele frequency: 6.488423207780086e-3
allele num: 66426
num of homozygotes: 3

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

African
type: Population
allele count: 13
allele frequency: 1.331694324933415e-3
allele num: 9762
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 3.548554613120997e-3
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.658233e6

QD
type: SiteQuality
SIO_000300: 1.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.446e0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8213
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
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: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
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: 1.3e0

QD
type: SiteQuality
SIO_000300: 2.789e1

VQSLOD
type: SiteQuality
SIO_000300: -1.861e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 1.625165e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.599e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 3.564e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 1843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.199e1

DP
type: SiteQuality
SIO_000300: 1.6232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.321e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -4.487e-1

FS
type: SiteQuality
SIO_000300: 8.654e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 1685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.486750348675035e-4
allele num: 8604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.619225e6

FS
type: SiteQuality
SIO_000300: 6.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.189e-1

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.468007629616785e-4
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.425271327229734e-4
allele num: 65972
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

DP
type: SiteQuality
SIO_000300: 1.61619e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4