2-152732954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732954
    reference: chr 2
allele count: 2
allele frequency: 1.70375166115787e-5
allele num: 117388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.405A>G
  hgvsp: ENST00000534999.1:c.405A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.366A>G
  hgvsp: ENST00000397327.2:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.507A>G
  hgvsp: ENST00000201943.5:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.405A>G
  hgvsp: ENST00000360283.6:c.405A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.412A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.453A>G
  hgvsp: ENST00000427385.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.507A>G
  hgvsp: ENST00000539935.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.492A>G
  hgvsp: ENST00000439467.1:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly169Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-152732956-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732956
    reference: chr 2
allele count: 1
allele frequency: 8.515276405872134e-6
allele num: 117436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.364G>C
  hgvsp: ENSP00000380490.2:p.Gly122Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.403G>C
  hgvsp: ENSP00000353425.6:p.Gly135Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.505G>C
  hgvsp: ENSP00000438949.1:p.Gly169Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.451G>C
  hgvsp: ENSP00000410978.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.490G>C
  hgvsp: ENSP00000390161.1:p.Gly164Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.403G>C
  hgvsp: ENSP00000443893.1:p.Gly135Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.505G>C
  hgvsp: ENSP00000201943.5:p.Gly169Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.410G>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly169Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-152732958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732958
    reference: chr 2
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.503G>C
  hgvsp: ENSP00000438949.1:p.Arg168Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.488G>C
  hgvsp: ENSP00000390161.1:p.Arg163Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.449G>C
  hgvsp: ENSP00000410978.1:p.Arg150Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.362G>C
  hgvsp: ENSP00000380490.2:p.Arg121Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.401G>C
  hgvsp: ENSP00000443893.1:p.Arg134Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.401G>C
  hgvsp: ENSP00000353425.6:p.Arg134Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.503G>C
  hgvsp: ENSP00000201943.5:p.Arg168Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.408G>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg168Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-152732964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732964
    reference: chr 2
allele count: 1
allele frequency: 8.519193743504115e-6
allele num: 117382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.356A>G
  hgvsp: ENSP00000380490.2:p.Gln119Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.482A>G
  hgvsp: ENSP00000390161.1:p.Gln161Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.497A>G
  hgvsp: ENSP00000201943.5:p.Gln166Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.395A>G
  hgvsp: ENSP00000353425.6:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.443A>G
  hgvsp: ENSP00000410978.1:p.Gln148Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.395A>G
  hgvsp: ENSP00000443893.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.497A>G
  hgvsp: ENSP00000438949.1:p.Gln166Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.402A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln166Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-152732965-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732965
    reference: chr 2
allele count: 1
allele frequency: 8.526312199447495e-6
allele num: 117284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.496C>A
  hgvsp: ENSP00000438949.1:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.442C>A
  hgvsp: ENSP00000410978.1:p.Gln148Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.394C>A
  hgvsp: ENSP00000443893.1:p.Gln132Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.355C>A
  hgvsp: ENSP00000380490.2:p.Gln119Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.496C>A
  hgvsp: ENSP00000201943.5:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.481C>A
  hgvsp: ENSP00000390161.1:p.Gln161Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.394C>A
  hgvsp: ENSP00000353425.6:p.Gln132Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.401C>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln166Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-152732993-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152732993
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152732993
    reference: chr 2
allele count: 1
allele frequency: 8.58885167053165e-6
allele num: 116430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.366A>C
  hgvsp: ENSP00000443893.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.373A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.414A>C
  hgvsp: ENSP00000410978.1:p.Arg138Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.327A>C
  hgvsp: ENSP00000380490.2:p.Arg109Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.453A>C
  hgvsp: ENSP00000390161.1:p.Arg151Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.366A>C
  hgvsp: ENSP00000353425.6:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.468A>C
  hgvsp: ENSP00000201943.5:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.468A>C
  hgvsp: ENSP00000438949.1:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg156Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-152733002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733002
    reference: chr 2
allele count: 1
allele frequency: 8.650519031141869e-6
allele num: 115600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.444T>C
  hgvsp: ENST00000439467.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.357T>C
  hgvsp: ENST00000360283.6:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.357T>C
  hgvsp: ENST00000534999.1:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.405T>C
  hgvsp: ENST00000427385.1:c.405T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.459T>C
  hgvsp: ENST00000539935.1:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.459T>C
  hgvsp: ENST00000201943.5:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.364T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.318T>C
  hgvsp: ENST00000397327.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.318T>C
  hgvsp: ENST00000434468.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser153Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-152733018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733018
    reference: chr 2
allele count: 2
allele frequency: 1.764695501791166e-5
allele num: 113334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.302T>C
  hgvsp: ENSP00000399242.1:p.Ile101Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.341T>C
  hgvsp: ENSP00000443893.1:p.Ile114Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.443T>C
  hgvsp: ENSP00000438949.1:p.Ile148Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.389T>C
  hgvsp: ENSP00000410978.1:p.Ile130Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.428T>C
  hgvsp: ENSP00000390161.1:p.Ile143Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.341T>C
  hgvsp: ENSP00000353425.6:p.Ile114Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.302T>C
  hgvsp: ENSP00000380490.2:p.Ile101Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.348T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.443T>C
  hgvsp: ENSP00000201943.5:p.Ile148Thr
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile148Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-152733023-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733023
    reference: chr 2
allele count: 1
allele frequency: 8.900598120193677e-6
allele num: 112352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.297T>C
  hgvsp: ENST00000434468.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.438T>C
  hgvsp: ENST00000201943.5:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.343T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.384T>C
  hgvsp: ENST00000427385.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.336T>C
  hgvsp: ENST00000360283.6:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.297T>C
  hgvsp: ENST00000397327.2:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.336T>C
  hgvsp: ENST00000534999.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.438T>C
  hgvsp: ENST00000539935.1:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.423T>C
  hgvsp: ENST00000439467.1:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys146Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-152733028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733028
    reference: chr 2
allele count: 1
allele frequency: 9.006737039305401e-6
allele num: 111028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.433G>A
  hgvsp: ENSP00000201943.5:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.331G>A
  hgvsp: ENSP00000353425.6:p.Gly111Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.379G>A
  hgvsp: ENSP00000410978.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.331G>A
  hgvsp: ENSP00000443893.1:p.Gly111Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.292G>A
  hgvsp: ENSP00000380490.2:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.292G>A
  hgvsp: ENSP00000399242.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.338G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.418G>A
  hgvsp: ENSP00000390161.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.433G>A
  hgvsp: ENSP00000438949.1:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly145Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-152733033-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733033
    reference: chr 2
allele count: 1
allele frequency: 9.185773074661964e-6
allele num: 108864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.374A>C
  hgvsp: ENSP00000410978.1:p.Lys125Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.413A>C
  hgvsp: ENSP00000390161.1:p.Lys138Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.326A>C
  hgvsp: ENSP00000353425.6:p.Lys109Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.287A>C
  hgvsp: ENSP00000399242.1:p.Lys96Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.287A>C
  hgvsp: ENSP00000380490.2:p.Lys96Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.326A>C
  hgvsp: ENSP00000443893.1:p.Lys109Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.333A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.428A>C
  hgvsp: ENSP00000438949.1:p.Lys143Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.428A>C
  hgvsp: ENSP00000201943.5:p.Lys143Thr
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys143Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-152733051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733051
    reference: chr 2
allele count: 1
allele frequency: 9.87205812667825e-6
allele num: 101296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.410G>A
  hgvsp: ENSP00000438949.1:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.269G>A
  hgvsp: ENSP00000399242.1:p.Trp90Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.308G>A
  hgvsp: ENSP00000443893.1:p.Trp103Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.395G>A
  hgvsp: ENSP00000390161.1:p.Trp132Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.269G>A
  hgvsp: ENSP00000380490.2:p.Trp90Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.356G>A
  hgvsp: ENSP00000410978.1:p.Trp119Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.410G>A
  hgvsp: ENSP00000201943.5:p.Trp137Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.308G>A
  hgvsp: ENSP00000353425.6:p.Trp103Ter
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.315G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp137Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-152733068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733068
    reference: chr 2
allele count: 1
allele frequency: 1.114454474534715e-5
allele num: 89730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.393A>G
  hgvsp: ENST00000201943.5:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.291A>G
  hgvsp: ENST00000360283.6:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.291A>G
  hgvsp: ENST00000534999.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.378A>G
  hgvsp: ENST00000439467.1:c.378A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.393A>G
  hgvsp: ENST00000539935.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.252A>G
  hgvsp: ENST00000397327.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.339A>G
  hgvsp: ENST00000427385.1:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.252A>G
  hgvsp: ENST00000434468.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.298A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
hgvs: c.393A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-152733081-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733080
    reference: chr 2
allele count: 2
allele frequency: 2.420252674379205e-5
allele num: 82636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.289-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.250-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.289-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.337-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.391-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.391-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.376-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.296-12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.250-12delT
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 20508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GA
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-152733100-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733100
    reference: chr 2
allele count: 1
allele frequency: 1.405125899280576e-5
allele num: 71168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.250-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.289-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.250-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.376-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.391-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.391-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.337-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.296-30A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.289-30A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19818
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-152733104-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733104
    reference: chr 2
allele count: 1
allele frequency: 1.446633683418685e-5
allele num: 69126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.376-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.250-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.289-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.250-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.391-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.337-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.296-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.289-34T>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.391-34T>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-152733120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152733120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152733120
    reference: chr 2
allele count: 1
allele frequency: 1.716915047043472e-5
allele num: 58244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.376-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.391-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.296-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.250-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.391-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.250-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.289-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.337-50G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.289-50G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-152737267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737267
    reference: chr 2
allele count: 2
allele frequency: 2.630540576088386e-5
allele num: 76030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+47G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+47G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7517
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152737278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737278
    reference: chr 2
allele count: 2
allele frequency: 2.606134841416695e-5
allele num: 76742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+36A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+36A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18609
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-152737281-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737281
    reference: chr 2
allele count: 8
allele frequency: 1.048245499095888e-4
allele num: 76318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+33G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+33G>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18328
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18483
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-152737283-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737283
    reference: chr 2
allele count: 3
allele frequency: 3.882188519074486e-5
allele num: 77276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+31C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+31C>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18200
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-152737285-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737285
    reference: chr 2
allele count: 71
allele frequency: 9.555340223944875e-4
allele num: 74304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+29A>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+29A>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18305
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 9.75e1
  variant carriers: 53
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-152737292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737292
    reference: chr 2
allele count: 3
allele frequency: 3.76081233546446e-5
allele num: 79770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.249+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.390+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.288+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.375+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.295+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.288+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.390+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.336+22T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.249+22T>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18203
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-152737336-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737336
    reference: chr 2
allele count: 1
allele frequency: 9.772878308119308e-6
allele num: 102324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.266A>C
  hgvsp: ENSP00000443893.1:p.Lys89Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.227A>C
  hgvsp: ENSP00000399242.1:p.Lys76Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.368A>C
  hgvsp: ENSP00000438949.1:p.Lys123Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.227A>C
  hgvsp: ENSP00000380490.2:p.Lys76Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.266A>C
  hgvsp: ENSP00000353425.6:p.Lys89Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.353A>C
  hgvsp: ENSP00000390161.1:p.Lys118Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.314A>C
  hgvsp: ENSP00000410978.1:p.Lys105Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.368A>C
  hgvsp: ENSP00000201943.5:p.Lys123Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.273A>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys123Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-152737337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737337
    reference: chr 2
allele count: 2
allele frequency: 1.937646534519173e-5
allele num: 103218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.226A>G
  hgvsp: ENSP00000380490.2:p.Lys76Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.367A>G
  hgvsp: ENSP00000201943.5:p.Lys123Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.313A>G
  hgvsp: ENSP00000410978.1:p.Lys105Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.265A>G
  hgvsp: ENSP00000443893.1:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.265A>G
  hgvsp: ENSP00000353425.6:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.352A>G
  hgvsp: ENSP00000390161.1:p.Lys118Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.367A>G
  hgvsp: ENSP00000438949.1:p.Lys123Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.226A>G
  hgvsp: ENSP00000399242.1:p.Lys76Glu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.272A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32248
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys123Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

2-152737373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737373
    reference: chr 2
allele count: 3
allele frequency: 2.539618041446566e-5
allele num: 118128
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.331G>A
  hgvsp: ENSP00000438949.1:p.Val111Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.331G>A
  hgvsp: ENSP00000201943.5:p.Val111Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.190G>A
  hgvsp: ENSP00000380490.2:p.Val64Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.229G>A
  hgvsp: ENSP00000443893.1:p.Val77Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.229G>A
  hgvsp: ENSP00000353425.6:p.Val77Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.190G>A
  hgvsp: ENSP00000399242.1:p.Val64Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.277G>A
  hgvsp: ENSP00000410978.1:p.Val93Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.316G>A
  hgvsp: ENSP00000390161.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.236G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val111Met
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-152737374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737374
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737374
    reference: chr 2
allele count: 1
allele frequency: 8.452799567216662e-6
allele num: 118304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.228T>C
  hgvsp: ENST00000360283.6:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.189T>C
  hgvsp: ENST00000434468.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.235T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.228T>C
  hgvsp: ENST00000534999.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.276T>C
  hgvsp: ENST00000427385.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.189T>C
  hgvsp: ENST00000397327.2:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.315T>C
  hgvsp: ENST00000439467.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.330T>C
  hgvsp: ENST00000201943.5:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.330T>C
  hgvsp: ENST00000539935.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp110Asp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

2-152737375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737375
    reference: chr 2
allele count: 2
allele frequency: 1.688903901368012e-5
allele num: 118420
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.329A>G
  hgvsp: ENSP00000438949.1:p.Asp110Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.227A>G
  hgvsp: ENSP00000353425.6:p.Asp76Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.234A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.227A>G
  hgvsp: ENSP00000443893.1:p.Asp76Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.275A>G
  hgvsp: ENSP00000410978.1:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.329A>G
  hgvsp: ENSP00000201943.5:p.Asp110Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.188A>G
  hgvsp: ENSP00000380490.2:p.Asp63Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.188A>G
  hgvsp: ENSP00000399242.1:p.Asp63Gly
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.314A>G
  hgvsp: ENSP00000390161.1:p.Asp105Gly
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp110Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/2-152737376-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737376
    reference: chr 2
allele count: 1
allele frequency: 8.436967416431838e-6
allele num: 118526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.187G>T
  hgvsp: ENSP00000380490.2:p.Asp63Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.328G>T
  hgvsp: ENSP00000201943.5:p.Asp110Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.226G>T
  hgvsp: ENSP00000353425.6:p.Asp76Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.226G>T
  hgvsp: ENSP00000443893.1:p.Asp76Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.313G>T
  hgvsp: ENSP00000390161.1:p.Asp105Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.274G>T
  hgvsp: ENSP00000410978.1:p.Asp92Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.328G>T
  hgvsp: ENSP00000438949.1:p.Asp110Tyr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.233G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.187G>T
  hgvsp: ENSP00000399242.1:p.Asp63Tyr
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp110Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-152737379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737379
    reference: chr 2
allele count: 1
allele frequency: 8.41609156707625e-6
allele num: 118820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.325G>A
  hgvsp: ENSP00000438949.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.223G>A
  hgvsp: ENSP00000443893.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.325G>A
  hgvsp: ENSP00000201943.5:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.184G>A
  hgvsp: ENSP00000399242.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.230G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.271G>A
  hgvsp: ENSP00000410978.1:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.184G>A
  hgvsp: ENSP00000380490.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.223G>A
  hgvsp: ENSP00000353425.6:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.310G>A
  hgvsp: ENSP00000390161.1:p.Glu104Lys
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu109Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS

2-152737380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737380
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737380
    reference: chr 2
allele count: 78
allele frequency: 6.550438375491283e-4
allele num: 119076
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.270C>T
  hgvsp: ENST00000427385.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.222C>T
  hgvsp: ENST00000360283.6:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.324C>T
  hgvsp: ENST00000201943.5:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.183C>T
  hgvsp: ENST00000397327.2:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.222C>T
  hgvsp: ENST00000534999.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.309C>T
  hgvsp: ENST00000439467.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.183C>T
  hgvsp: ENST00000434468.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.229C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.324C>T
  hgvsp: ENST00000539935.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36844
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp108Asp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-152737388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737388
    reference: chr 2
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.301G>A
  hgvsp: ENSP00000390161.1:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.316G>A
  hgvsp: ENSP00000201943.5:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.214G>A
  hgvsp: ENSP00000353425.6:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.175G>A
  hgvsp: ENSP00000380490.2:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.214G>A
  hgvsp: ENSP00000443893.1:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.262G>A
  hgvsp: ENSP00000410978.1:p.Ala88Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.221G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.316G>A
  hgvsp: ENSP00000438949.1:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.175G>A
  hgvsp: ENSP00000399242.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala106Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-152737389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737389
    reference: chr 2
allele count: 6
allele frequency: 5.011777677542225e-5
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.213C>T
  hgvsp: ENST00000360283.6:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.315C>T
  hgvsp: ENST00000201943.5:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.220C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.315C>T
  hgvsp: ENST00000539935.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.174C>T
  hgvsp: ENST00000397327.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.261C>T
  hgvsp: ENST00000427385.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.174C>T
  hgvsp: ENST00000434468.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.213C>T
  hgvsp: ENST00000534999.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.300C>T
  hgvsp: ENST00000439467.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly105Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-152737389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737389
    reference: chr 2
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.174C>G
  hgvsp: ENST00000434468.1:c.174C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.213C>G
  hgvsp: ENST00000360283.6:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.315C>G
  hgvsp: ENST00000539935.1:c.315C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.261C>G
  hgvsp: ENST00000427385.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.315C>G
  hgvsp: ENST00000201943.5:c.315C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.174C>G
  hgvsp: ENST00000397327.2:c.174C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.300C>G
  hgvsp: ENST00000439467.1:c.300C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.213C>G
  hgvsp: ENST00000534999.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.220C>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly105Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-152737391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737391
    reference: chr 2
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.172G>A
  hgvsp: ENSP00000399242.1:p.Gly58Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.259G>A
  hgvsp: ENSP00000410978.1:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.313G>A
  hgvsp: ENSP00000438949.1:p.Gly105Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.211G>A
  hgvsp: ENSP00000353425.6:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.172G>A
  hgvsp: ENSP00000380490.2:p.Gly58Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.211G>A
  hgvsp: ENSP00000443893.1:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.298G>A
  hgvsp: ENSP00000390161.1:p.Gly100Ser
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.218G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.313G>A
  hgvsp: ENSP00000201943.5:p.Gly105Ser
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly105Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

2-152737392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737392
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737392
    reference: chr 2
allele count: 2
allele frequency: 1.667639456349537e-5
allele num: 119930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.171C>T
  hgvsp: ENST00000397327.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.171C>T
  hgvsp: ENST00000434468.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.312C>T
  hgvsp: ENST00000201943.5:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.210C>T
  hgvsp: ENST00000534999.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.210C>T
  hgvsp: ENST00000360283.6:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.258C>T
  hgvsp: ENST00000427385.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.312C>T
  hgvsp: ENST00000539935.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.217C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.297C>T
  hgvsp: ENST00000439467.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys104Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-152737393-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737393
    reference: chr 2
allele count: 54
allele frequency: 4.4995500449955e-4
allele num: 120012
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.311G>T
  hgvsp: ENSP00000438949.1:p.Cys104Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.170G>T
  hgvsp: ENSP00000380490.2:p.Cys57Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.209G>T
  hgvsp: ENSP00000353425.6:p.Cys70Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.296G>T
  hgvsp: ENSP00000390161.1:p.Cys99Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.216G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.257G>T
  hgvsp: ENSP00000410978.1:p.Cys86Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.311G>T
  hgvsp: ENSP00000201943.5:p.Cys104Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.209G>T
  hgvsp: ENSP00000443893.1:p.Cys70Phe
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.170G>T
  hgvsp: ENSP00000399242.1:p.Cys57Phe
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36440
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys104Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-152737399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737399
    reference: chr 2
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.251G>A
  hgvsp: ENSP00000410978.1:p.Ser84Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.203G>A
  hgvsp: ENSP00000353425.6:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.210G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.305G>A
  hgvsp: ENSP00000201943.5:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.203G>A
  hgvsp: ENSP00000443893.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.164G>A
  hgvsp: ENSP00000380490.2:p.Ser55Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.290G>A
  hgvsp: ENSP00000390161.1:p.Ser97Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.164G>A
  hgvsp: ENSP00000399242.1:p.Ser55Asn
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.305G>A
  hgvsp: ENSP00000438949.1:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser102Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-152737405-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737405
    reference: chr 2
allele count: 3
allele frequency: 2.492688114863068e-5
allele num: 120352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.158A>T
  hgvsp: ENSP00000380490.2:p.Asn53Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.158A>T
  hgvsp: ENSP00000399242.1:p.Asn53Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.197A>T
  hgvsp: ENSP00000353425.6:p.Asn66Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.299A>T
  hgvsp: ENSP00000438949.1:p.Asn100Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.197A>T
  hgvsp: ENSP00000443893.1:p.Asn66Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.204A>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.245A>T
  hgvsp: ENSP00000410978.1:p.Asn82Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.284A>T
  hgvsp: ENSP00000390161.1:p.Asn95Ile
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.299A>T
  hgvsp: ENSP00000201943.5:p.Asn100Ile
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn100Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-152737415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737415
    reference: chr 2
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.274G>A
  hgvsp: ENSP00000390161.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.187G>A
  hgvsp: ENSP00000353425.6:p.Val63Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.289G>A
  hgvsp: ENSP00000438949.1:p.Val97Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.148G>A
  hgvsp: ENSP00000399242.1:p.Val50Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.235G>A
  hgvsp: ENSP00000410978.1:p.Val79Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.289G>A
  hgvsp: ENSP00000201943.5:p.Val97Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.187G>A
  hgvsp: ENSP00000443893.1:p.Val63Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.148G>A
  hgvsp: ENSP00000380490.2:p.Val50Met
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.194G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val97Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-152737416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737416
    reference: chr 2
allele count: 5
allele frequency: 4.152685957277167e-5
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.147C>T
  hgvsp: ENST00000397327.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.147C>T
  hgvsp: ENST00000434468.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.288C>T
  hgvsp: ENST00000201943.5:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.234C>T
  hgvsp: ENST00000427385.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.186C>T
  hgvsp: ENST00000360283.6:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.288C>T
  hgvsp: ENST00000539935.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.273C>T
  hgvsp: ENST00000439467.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.186C>T
  hgvsp: ENST00000534999.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.193C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala96Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152737441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737441
    reference: chr 2
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.127-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.268-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.173-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.166-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.268-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.127-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.253-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.214-5C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.166-5C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: c.268-5C>T
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-152737451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737451
    reference: chr 2
allele count: 1
allele frequency: 8.336390009670212e-6
allele num: 119956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.268-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.166-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.253-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.214-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.127-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.173-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.127-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.166-15T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.268-15T>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-152737457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737457
    reference: chr 2
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.127-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.173-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.127-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.268-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.253-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.268-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.166-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.214-21A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.166-21A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-152737472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737472
    reference: chr 2
allele count: 901
allele frequency: 7.572192153830638e-3
allele num: 118988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.268-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.253-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.268-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.127-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.127-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.173-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.166-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.166-36C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.214-36C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34600
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 9.75e1
  variant carriers: 892
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 6
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-152737483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152737483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152737483
    reference: chr 2
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.268-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.214-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.268-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.253-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.166-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.127-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.166-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.127-47C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.173-47C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-152739724-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739724
    reference: chr 2
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+41T>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+41T>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-152739725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739725
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+40T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+40T>C
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-152739726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739726
    reference: chr 2
allele count: 12
allele frequency: 9.950743818100404e-5
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+39G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+39G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-152739727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739727
    reference: chr 2
allele count: 3
allele frequency: 2.487562189054726e-5
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+38C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+38C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-152739729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739729
    reference: chr 2
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+36G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+36G>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-152739730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739730
    reference: chr 2
allele count: 9
allele frequency: 7.460706943431261e-5
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+35G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+35G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-152739731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739731
    reference: chr 2
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+34G>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+34G>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-152739752-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739751
    reference: chr 2
allele count: 9
allele frequency: 7.454280413464087e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+12delT
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+12delT
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32238
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-152739756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739756
    reference: chr 2
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.172+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.267+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.165+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.213+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.165+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.267+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.252+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.126+9C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.126+9C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-152739774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739774
    reference: chr 2
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.258G>A
  hgvsp: ENST00000201943.5:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.243G>A
  hgvsp: ENST00000439467.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.204G>A
  hgvsp: ENST00000427385.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.163G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.156G>A
  hgvsp: ENST00000534999.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.117G>A
  hgvsp: ENST00000434468.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.156G>A
  hgvsp: ENST00000360283.6:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.117G>A
  hgvsp: ENST00000397327.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.258G>A
  hgvsp: ENST00000539935.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu86Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-152739804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739804
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.126G>A
  hgvsp: ENST00000534999.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.228G>A
  hgvsp: ENST00000539935.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.213G>A
  hgvsp: ENST00000439467.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.87G>A
  hgvsp: ENST00000397327.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.228G>A
  hgvsp: ENST00000201943.5:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.133G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.174G>A
  hgvsp: ENST00000427385.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.126G>A
  hgvsp: ENST00000360283.6:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.87G>A
  hgvsp: ENST00000434468.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu76Glu
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: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-152739808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739808
    reference: chr 2
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.122A>G
  hgvsp: ENSP00000353425.6:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.224A>G
  hgvsp: ENSP00000438949.1:p.Gln75Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.224A>G
  hgvsp: ENSP00000201943.5:p.Gln75Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.83A>G
  hgvsp: ENSP00000380490.2:p.Gln28Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.209A>G
  hgvsp: ENSP00000390161.1:p.Gln70Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.170A>G
  hgvsp: ENSP00000410978.1:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.83A>G
  hgvsp: ENSP00000399242.1:p.Gln28Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.122A>G
  hgvsp: ENSP00000443893.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.129A>G
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln75Arg
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: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-152739810-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739810
    reference: chr 2
allele count: 54
allele frequency: 4.471531251035077e-4
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.120A>T
  hgvsp: ENST00000360283.6:c.120A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.127A>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.207A>T
  hgvsp: ENST00000439467.1:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.222A>T
  hgvsp: ENST00000201943.5:c.222A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.81A>T
  hgvsp: ENST00000397327.2:c.81A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.222A>T
  hgvsp: ENST00000539935.1:c.222A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.81A>T
  hgvsp: ENST00000434468.1:c.81A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.120A>T
  hgvsp: ENST00000534999.1:c.120A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.168A>T
  hgvsp: ENST00000427385.1:c.168A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg74Arg
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-152739811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739811
    reference: chr 2
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.119G>A
  hgvsp: ENSP00000443893.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.80G>A
  hgvsp: ENSP00000380490.2:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.221G>A
  hgvsp: ENSP00000438949.1:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.167G>A
  hgvsp: ENSP00000410978.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.126G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.584G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.119G>A
  hgvsp: ENSP00000353425.6:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.221G>A
  hgvsp: ENSP00000201943.5:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.80G>A
  hgvsp: ENSP00000399242.1:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.206G>A
  hgvsp: ENSP00000390161.1:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg74Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

2-152739815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739815
    reference: chr 2
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.76A>G
  hgvsp: ENSP00000380490.2:p.Ile26Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.76A>G
  hgvsp: ENSP00000399242.1:p.Ile26Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.122A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.115A>G
  hgvsp: ENSP00000443893.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.202A>G
  hgvsp: ENSP00000390161.1:p.Ile68Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.115A>G
  hgvsp: ENSP00000353425.6:p.Ile39Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.217A>G
  hgvsp: ENSP00000201943.5:p.Ile73Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.163A>G
  hgvsp: ENSP00000410978.1:p.Ile55Val
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.580A>G
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.217A>G
  hgvsp: ENSP00000438949.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile73Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-152739823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739823
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.155G>C
  hgvsp: ENSP00000410978.1:p.Arg52Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.114G>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.194G>C
  hgvsp: ENSP00000390161.1:p.Arg65Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.107G>C
  hgvsp: ENSP00000443893.1:p.Arg36Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.209G>C
  hgvsp: ENSP00000201943.5:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.68G>C
  hgvsp: ENSP00000380490.2:p.Arg23Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.68G>C
  hgvsp: ENSP00000399242.1:p.Arg23Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.107G>C
  hgvsp: ENSP00000353425.6:p.Arg36Pro
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.572G>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.209G>C
  hgvsp: ENSP00000438949.1:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32311
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg70Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-152739823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739823
    reference: chr 2
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.68G>A
  hgvsp: ENSP00000380490.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.107G>A
  hgvsp: ENSP00000443893.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.194G>A
  hgvsp: ENSP00000390161.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.572G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.68G>A
  hgvsp: ENSP00000399242.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.209G>A
  hgvsp: ENSP00000201943.5:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.209G>A
  hgvsp: ENSP00000438949.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.107G>A
  hgvsp: ENSP00000353425.6:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.155G>A
  hgvsp: ENSP00000410978.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.114G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg70Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

2-152739824-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739824
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.106C>A
  hgvsp: ENST00000534999.1:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.208C>A
  hgvsp: ENST00000539935.1:c.208C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.67C>A
  hgvsp: ENST00000397327.2:c.67C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.113C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.106C>A
  hgvsp: ENST00000360283.6:c.106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.208C>A
  hgvsp: ENST00000201943.5:c.208C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.154C>A
  hgvsp: ENST00000427385.1:c.154C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.193C>A
  hgvsp: ENST00000439467.1:c.193C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.571C>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.67C>A
  hgvsp: ENST00000434468.1:c.67C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg70Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152739837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739837
    reference: chr 2
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.558T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.195T>C
  hgvsp: ENST00000201943.5:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.93T>C
  hgvsp: ENST00000534999.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.54T>C
  hgvsp: ENST00000434468.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.93T>C
  hgvsp: ENST00000360283.6:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.54T>C
  hgvsp: ENST00000397327.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.141T>C
  hgvsp: ENST00000427385.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.195T>C
  hgvsp: ENST00000539935.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.100T>C
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.180T>C
  hgvsp: ENST00000439467.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser65Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-152739846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739846
    reference: chr 2
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.91C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.171C>T
  hgvsp: ENST00000439467.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.84C>T
  hgvsp: ENST00000534999.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.45C>T
  hgvsp: ENST00000434468.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.186C>T
  hgvsp: ENST00000201943.5:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.45C>T
  hgvsp: ENST00000397327.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.549C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.132C>T
  hgvsp: ENST00000427385.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.186C>T
  hgvsp: ENST00000539935.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.84C>T
  hgvsp: ENST00000360283.6:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32308
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser62Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-152739855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739855
    reference: chr 2
allele count: 5
allele frequency: 4.140238146498186e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.177G>A
  hgvsp: ENST00000201943.5:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.162G>A
  hgvsp: ENST00000439467.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.36G>A
  hgvsp: ENST00000397327.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.75G>A
  hgvsp: ENST00000360283.6:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.75G>A
  hgvsp: ENST00000534999.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.123G>A
  hgvsp: ENST00000427385.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.36G>A
  hgvsp: ENST00000434468.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.540G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.82G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.177G>A
  hgvsp: ENST00000539935.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro59Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-152739856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739856
    reference: chr 2
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.74C>T
  hgvsp: ENSP00000353425.6:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.176C>T
  hgvsp: ENSP00000201943.5:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.539C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.122C>T
  hgvsp: ENSP00000410978.1:p.Pro41Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.74C>T
  hgvsp: ENSP00000443893.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.81C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.35C>T
  hgvsp: ENSP00000380490.2:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.176C>T
  hgvsp: ENSP00000438949.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.35C>T
  hgvsp: ENSP00000399242.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.161C>T
  hgvsp: ENSP00000390161.1:p.Pro54Leu
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32314
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro59Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-152739870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739870
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.162C>T
  hgvsp: ENST00000201943.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.60C>T
  hgvsp: ENST00000534999.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.147C>T
  hgvsp: ENST00000439467.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.108C>T
  hgvsp: ENST00000427385.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.21C>T
  hgvsp: ENST00000397327.2:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.21C>T
  hgvsp: ENST00000434468.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.162C>T
  hgvsp: ENST00000539935.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.60C>T
  hgvsp: ENST00000360283.6:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.525C>T
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.67C>T
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser54Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

2-152739876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152739876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152739876
    reference: chr 2
allele count: 9
allele frequency: 7.452798940046373e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000390161
  ensembl transcript: ENST00000439467
  gene symbol: CACNB4
  hgvsc: ENST00000439467.1:c.141G>A
  hgvsp: ENST00000439467.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000353425
  ensembl transcript: ENST00000360283
  gene symbol: CACNB4
  hgvsc: ENST00000360283.6:c.54G>A
  hgvsp: ENST00000360283.6:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000399242
  ensembl transcript: ENST00000434468
  gene symbol: CACNB4
  hgvsc: ENST00000434468.1:c.15G>A
  hgvsp: ENST00000434468.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000380490
  ensembl transcript: ENST00000397327
  gene symbol: CACNB4
  hgvsc: ENST00000397327.2:c.15G>A
  hgvsp: ENST00000397327.2:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000470066
  gene symbol: CACNB4
  hgvsc: ENST00000470066.1:n.61G>A
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000201943
  ensembl transcript: ENST00000201943
  gene symbol: CACNB4
  hgvsc: ENST00000201943.5:c.156G>A
  hgvsp: ENST00000201943.5:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000443893
  ensembl transcript: ENST00000534999
  gene symbol: CACNB4
  hgvsc: ENST00000534999.1:c.54G>A
  hgvsp: ENST00000534999.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000438949
  ensembl transcript: ENST00000539935
  gene symbol: CACNB4
  hgvsc: ENST00000539935.1:c.156G>A
  hgvsp: ENST00000539935.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182389
  ensembl protein: ENSP00000410978
  ensembl transcript: ENST00000427385
  gene symbol: CACNB4
  hgvsc: ENST00000427385.1:c.102G>A
  hgvsp: ENST00000427385.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182389
  ensembl transcript: ENST00000475848
  gene symbol: CACNB4
  hgvsc: ENST00000475848.1:n.519G>A
  variant of: http://identifiers.org/hgnc/1404
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala52Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2604
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077491229149997e-5
allele num: 64988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.71763e6

GenotypeQuality
all individuals: 948
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 680
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53803562090498e-5
allele num: 65018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

DP
type: SiteQuality
SIO_000300: 1.719541e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 893
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39992
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 1.720801e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

FS
type: SiteQuality
SIO_000300: 1.696e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.316321374431532e-5
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64992
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.998e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.045e0

FS
type: SiteQuality
SIO_000300: 1.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.719202e6

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
all individuals: 40987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.055966209081309e-4
allele num: 9470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.53434e2

DP
type: SiteQuality
SIO_000300: 1.720656e6

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
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SIO_000300: -1.135e2

ReadPosRankSum
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SIO_000300: -2.707e0

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
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SIO_000300: -3.406e0

QD
type: SiteQuality
SIO_000300: 1.2e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.39467962655071e-5
allele num: 15638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -1.09e-1

FS
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MQRankSum
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SIO_000300: -1.625e0

VQSLOD
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SIO_000300: -1.475e0

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

African
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allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.560695445890689e-5
allele num: 64074
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.184814803019204e-5
allele num: 62798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 1.342e0

ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.053e1

BaseQRankSum
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SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.68071e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15072
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.08837614279495e-4
allele num: 9188
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62234
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Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 1.998e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.667372e6

MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 61430
num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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allele frequency: 0.0e0
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East Asian
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QD
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 10022
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European (Finnish)
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European (Non-Finnish)
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allele num: 60174
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South Asian
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African
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Other
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East Asian
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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East Asian
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South Asian
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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Other
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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FS
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ReadPosRankSum
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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: 1.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.63425396306586e-4
allele num: 12238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 1.197574e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.032520325203252e-4
allele num: 4920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.433e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.067343e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.213368747233289e-4
allele num: 4518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.049183e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.616e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.065603923973023e-4
allele num: 3262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.549e1

DP
type: SiteQuality
SIO_000300: 1.006403e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.809079542175627e-5
allele num: 41588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.706e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 3.333e0

DP
type: SiteQuality
SIO_000300: 9.47585e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.13e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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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: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 2
allele frequency: 3.495281370150297e-4
allele num: 5722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.889e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 9.6125e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 1426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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GenotypeQuality
all individuals: 1400
bin: 4.75e1
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GenotypeQuality
all individuals: 1707
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.913326317803501e-4
allele num: 41812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

DP
type: SiteQuality
SIO_000300: 9.68361e5

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.215434083601286e-4
allele num: 6220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.359937697644782e-5
allele num: 42374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 9.71794e5

FS
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 686
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variant carriers: 3

GenotypeQuality
all individuals: 1801
bin: 1.25e1
variant carriers: 1

African
type: Population
allele count: 16
allele frequency: 2.69996625042187e-3
allele num: 5926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 7.739938080495357e-4
allele num: 3876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 1.198512865668721e-3
allele num: 40884
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 7.781699999999999e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.795e0

VQSLOD
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SIO_000300: -2.978e1

ReadPosRankSum
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SIO_000300: -1.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

DP
type: SiteQuality
SIO_000300: 9.79427e5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.556431402925229e-5
allele num: 43894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.551831160769708e-4
allele num: 6444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 7.989e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.84678e5

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743435963597057e-5
allele num: 57358
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

DP
type: SiteQuality
SIO_000300: 1.316749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

FS
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728728001936176e-5
allele num: 57846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 4.706e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.327098e6

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.298815822625347e-5
allele num: 15876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044418059487929e-5
allele num: 65694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e0

DP
type: SiteQuality
SIO_000300: 1.530275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

FS
type: SiteQuality
SIO_000300: 1.875e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11258
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South Asian
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allele count: 1
allele frequency: 6.284565108094519e-5
allele num: 15912
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ClippingRankSum
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BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.16e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.038405444822557e-5
allele num: 65824
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15944
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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FS
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MQ
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.51804960986125e-5
allele num: 65874
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 888
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.542077e6

QD
type: SiteQuality
SIO_000300: 1.25e1

FS
type: SiteQuality
SIO_000300: 3.465e0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 78

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1756
bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 8.061139028475712e-3
allele num: 9552
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.81057268722467e-5
allele num: 11350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.548362e6

QD
type: SiteQuality
SIO_000300: 1.386e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.557259e6

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.036144578313253e-5
allele num: 66400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.775e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.559533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.559533e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 1.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.562181e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.131e1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.031e1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.314e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.565581e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
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variant carriers: 54

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

Other
type: Population
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allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 53
allele frequency: 7.969924812030075e-4
allele num: 66500
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 1.567953e6

FS
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
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: 9706
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
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SIO_000300: 5.21e-1

InbreedingCoeff
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SIO_000300: 1.7e-3

MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

DP
type: SiteQuality
SIO_000300: 1.572783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -1.962e0

FS
type: SiteQuality
SIO_000300: 4.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.802e1

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 885
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.573361e6

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.25e1
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GenotypeQuality
all individuals: 3208
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6819
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40577
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.45188181929631e-4
allele num: 16314
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.573272e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.366e0

QD
type: SiteQuality
SIO_000300: 1.401e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

GenotypeQuality
all individuals: 877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 39832
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 1.55832e6

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

QD
type: SiteQuality
SIO_000300: 1.627e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 3204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.134e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 1.547047e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.38e1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

DP
type: SiteQuality
SIO_000300: 1.537808e6

GenotypeQuality
all individuals: 35614
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5898
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 925
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 6
allele frequency: 6.802721088435374e-3
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 60
allele frequency: 3.917471924784539e-3
allele num: 15316
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.422983731394946e-3
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.150757886112249e-3
allele num: 9764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 115
allele frequency: 1.738736014514666e-2
allele num: 6614
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 670
allele frequency: 1.011503970530511e-2
allele num: 66238
num of homozygotes: 4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.535006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 1.328e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 351
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
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variant carriers: 0

GenotypeQuality
all individuals: 34851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.025010250102501e-4
allele num: 9756
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.567e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.68e0

DP
type: SiteQuality
SIO_000300: 1.523588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8097
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.985722e6

MQRankSum
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SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

QD
type: SiteQuality
SIO_000300: 1.664e1

VQSLOD
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SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 9788
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

DP
type: SiteQuality
SIO_000300: 1.986317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.73e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.137e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

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

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

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200588288261248e-4
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.987428e6

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.356e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 81
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502611514678514e-5
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 3.504e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

DP
type: SiteQuality
SIO_000300: 1.988502e6

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
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: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.053e0

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: -6.038e-1

DP
type: SiteQuality
SIO_000300: 1.989536e6

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050294082343056e-4
allele num: 66648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

DP
type: SiteQuality
SIO_000300: 1.99034e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

South Asian
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allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.481e0

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.98e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Other
type: Population
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allele num: 896
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East Asian
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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: 9798
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049223574554829e-4
allele num: 66716
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.551e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.021e1

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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South Asian
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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FS
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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 num: 66738
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European (Finnish)
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

East Asian
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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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Other
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.898e1

DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.2e-3

QD
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 66740
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele num: 16512
num of homozygotes: 0

African
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allele num: 9800
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Other
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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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 count: 0
allele frequency: 0.0e0
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European (Finnish)
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QD
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66738
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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Other
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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