12-1904996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1904996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1904996
    reference: chr 12
allele count: 9
allele frequency: 7.485278951395589e-5
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*307-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3114-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3039-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1298-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000588896
  gene symbol: CACNA2D4
  hgvsc: ENST00000588896.1:n.120C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.554-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*247-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*307-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.504-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3944-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2922-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3114-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.549-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2922-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.244-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*307-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.141-50C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.108-50C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-1906534-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906534
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.548+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2921+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2921+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1297+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3113+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.553+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3113+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*306+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.243+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3943+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*246+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.503+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3038+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.107+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*306+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*306+50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.140+50C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-1906540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906540
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3113+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*306+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2921+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.107+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3038+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.503+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*246+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*306+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.243+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3113+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2921+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.548+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1297+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3943+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*306+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.140+44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.553+44C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-1906542-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906542
    reference: chr 12
allele count: 38
allele frequency: 2.307785740313373e-3
allele num: 16466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*306+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2921+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2921+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.243+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.553+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3113+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*246+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3113+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.548+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.503+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.107+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.140+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3943+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3038+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*306+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*306+42C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1297+42C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-1906571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906571
    reference: chr 12
allele count: 1
allele frequency: 6.727664155005382e-5
allele num: 14864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3113+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.243+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*246+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1297+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2921+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3113+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*306+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.553+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*306+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*306+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.140+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.548+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3038+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2921+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.107+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3943+13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.503+13G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

12-1906587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906587
    reference: chr 12
allele count: 1
allele frequency: 5.922767116796968e-5
allele num: 16884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1294A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2918A>G
  hgvsp: ENSP00000467697.1:p.Gln973Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.137A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*303A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.550A>G
  hgvsp: ENSP00000468167.1:p.Gln184Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*303A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3110A>G
  hgvsp: ENSP00000465060.1:p.Gln1037Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*303A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2918A>G
  hgvsp: ENSP00000468530.1:p.Gln973Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.104A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3035A>G
  hgvsp: ENSP00000465372.1:p.Gln1012Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.545A>G
  hgvsp: ENSP00000443038.2:p.Gln182Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3110A>G
  hgvsp: ENSP00000372169.4:p.Gln1037Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3940A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*243A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.500A>G
  hgvsp: ENSP00000446341.1:p.Gln167Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.240A>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1037Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

12-1906592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906592
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 17828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.545C>T
  hgvsp: ENST00000536846.2:c.545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2913C>T
  hgvsp: ENST00000588077.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*298C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.540C>T
  hgvsp: ENST00000538027.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1289C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3105C>T
  hgvsp: ENST00000382722.5:c.3105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.495C>T
  hgvsp: ENST00000538450.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3105C>T
  hgvsp: ENST00000586184.1:c.3105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2913C>T
  hgvsp: ENST00000585708.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*298C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3030C>T
  hgvsp: ENST00000587995.1:c.3030C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.99C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.132C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3935C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.235C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*298C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1035Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-1906594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906594
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3933C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.130C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2911C>T
  hgvsp: ENSP00000467697.1:p.Pro971Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.543C>T
  hgvsp: ENSP00000468167.1:p.Pro182Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.493C>T
  hgvsp: ENSP00000446341.1:p.Pro165Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.538C>T
  hgvsp: ENSP00000443038.2:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3103C>T
  hgvsp: ENSP00000465060.1:p.Pro1035Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3028C>T
  hgvsp: ENSP00000465372.1:p.Pro1010Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2911C>T
  hgvsp: ENSP00000468530.1:p.Pro971Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.97C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.233C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1287C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*296C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3103C>T
  hgvsp: ENSP00000372169.4:p.Pro1035Ser
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1035Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

12-1906598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906598
    reference: chr 12
allele count: 1
allele frequency: 5.222477543346563e-5
allele num: 19148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1283C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3099C>T
  hgvsp: ENST00000382722.5:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.126C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3929C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.539C>T
  hgvsp: ENST00000536846.2:c.539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3099C>T
  hgvsp: ENST00000586184.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.489C>T
  hgvsp: ENST00000538450.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2907C>T
  hgvsp: ENST00000588077.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.229C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*292C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.534C>T
  hgvsp: ENST00000538027.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*292C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*292C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2907C>T
  hgvsp: ENST00000585708.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3024C>T
  hgvsp: ENST00000587995.1:c.3024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.93C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1033Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-1906599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906599
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 19574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3023G>A
  hgvsp: ENSP00000465372.1:p.Cys1008Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.533G>A
  hgvsp: ENSP00000443038.2:p.Cys178Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.125G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2906G>A
  hgvsp: ENSP00000468530.1:p.Cys969Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.538G>A
  hgvsp: ENSP00000468167.1:p.Cys180Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3098G>A
  hgvsp: ENSP00000372169.4:p.Cys1033Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3928G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.488G>A
  hgvsp: ENSP00000446341.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*231G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2906G>A
  hgvsp: ENSP00000467697.1:p.Cys969Tyr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.92G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.228G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1282G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*291G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3098G>A
  hgvsp: ENSP00000465060.1:p.Cys1033Tyr
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26750
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1033Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-1906610-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906610
    reference: chr 12
allele count: 2
allele frequency: 8.658758334054896e-5
allele num: 23098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*220G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.114G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*280G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*280G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1271G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3087G>T
  hgvsp: ENST00000586184.1:c.3087G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.477G>T
  hgvsp: ENST00000538450.1:c.477G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2895G>T
  hgvsp: ENST00000588077.1:c.2895G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3917G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*280G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.522G>T
  hgvsp: ENST00000538027.2:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3087G>T
  hgvsp: ENST00000382722.5:c.3087G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2895G>T
  hgvsp: ENST00000585708.1:c.2895G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.217G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.81G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3012G>T
  hgvsp: ENST00000587995.1:c.3012G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.527G>T
  hgvsp: ENST00000536846.2:c.527G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1029Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

12-1906613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906613
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 24340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*277C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.519C>A
  hgvsp: ENSP00000443038.2:p.Asn173Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3084C>A
  hgvsp: ENSP00000372169.4:p.Asn1028Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.78C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*277C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3084C>A
  hgvsp: ENSP00000465060.1:p.Asn1028Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.524C>A
  hgvsp: ENSP00000468167.1:p.Asn175Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.214C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2892C>A
  hgvsp: ENSP00000467697.1:p.Asn964Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*277C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2892C>A
  hgvsp: ENSP00000468530.1:p.Asn964Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1268C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.474C>A
  hgvsp: ENSP00000446341.1:p.Asn158Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3914C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*217C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.3009C>A
  hgvsp: ENSP00000465372.1:p.Asn1003Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.111C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1028Lys
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: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-1906630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906630
    reference: chr 12
allele count: 3
allele frequency: 9.912112601599155e-5
allele num: 30266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3067G>A
  hgvsp: ENSP00000372169.4:p.Ala1023Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.197G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1251G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.94G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3067G>A
  hgvsp: ENSP00000465060.1:p.Ala1023Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.61G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.457G>A
  hgvsp: ENSP00000446341.1:p.Ala153Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.502G>A
  hgvsp: ENSP00000443038.2:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2875G>A
  hgvsp: ENSP00000467697.1:p.Ala959Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2875G>A
  hgvsp: ENSP00000468530.1:p.Ala959Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3897G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2992G>A
  hgvsp: ENSP00000465372.1:p.Ala998Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*260G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.507G>A
  hgvsp: ENSP00000468167.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1023Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-1906631-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906631
    reference: chr 12
allele count: 1
allele frequency: 3.250763929523438e-5
allele num: 30762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.501G>T
  hgvsp: ENST00000538027.2:c.501G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*199G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.456G>T
  hgvsp: ENST00000538450.1:c.456G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.93G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2874G>T
  hgvsp: ENST00000588077.1:c.2874G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3066G>T
  hgvsp: ENST00000382722.5:c.3066G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2991G>T
  hgvsp: ENST00000587995.1:c.2991G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2874G>T
  hgvsp: ENST00000585708.1:c.2874G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*259G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*259G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3066G>T
  hgvsp: ENST00000586184.1:c.3066G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*259G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.506G>T
  hgvsp: ENST00000536846.2:c.506G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3896G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.60G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1250G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.196G>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1022Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

12-1906631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906631
    reference: chr 12
allele count: 3
allele frequency: 9.752291788570315e-5
allele num: 30762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.456G>A
  hgvsp: ENST00000538450.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2874G>A
  hgvsp: ENST00000588077.1:c.2874G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2874G>A
  hgvsp: ENST00000585708.1:c.2874G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.506G>A
  hgvsp: ENST00000536846.2:c.506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.93G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.501G>A
  hgvsp: ENST00000538027.2:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3066G>A
  hgvsp: ENST00000382722.5:c.3066G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.60G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*259G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2991G>A
  hgvsp: ENST00000587995.1:c.2991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3066G>A
  hgvsp: ENST00000586184.1:c.3066G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.196G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3896G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1250G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1022Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-1906632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906632
    reference: chr 12
allele count: 663
allele frequency: 2.093992798938791e-2
allele num: 31662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.500C>T
  hgvsp: ENSP00000443038.2:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1249C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2873C>T
  hgvsp: ENSP00000468530.1:p.Pro958Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3065C>T
  hgvsp: ENSP00000465060.1:p.Pro1022Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.455C>T
  hgvsp: ENSP00000446341.1:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3065C>T
  hgvsp: ENSP00000372169.4:p.Pro1022Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.92C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*258C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3895C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.505C>T
  hgvsp: ENSP00000468167.1:p.Pro169Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.59C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2990C>T
  hgvsp: ENSP00000465372.1:p.Pro997Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2873C>T
  hgvsp: ENSP00000467697.1:p.Pro958Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.195C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*198C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35594
  bin: 7.5e0
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
hgvs: p.Pro1022Leu
num of homozygotes: 13
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-1906636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906636
    reference: chr 12
allele count: 1
allele frequency: 3.136959658698789e-5
allele num: 31878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3061C>T
  hgvsp: ENSP00000465060.1:p.Gln1021Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.496C>T
  hgvsp: ENSP00000443038.2:p.Gln166Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2869C>T
  hgvsp: ENSP00000468530.1:p.Gln957Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3891C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.88C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3061C>T
  hgvsp: ENSP00000372169.4:p.Gln1021Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.191C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2869C>T
  hgvsp: ENSP00000467697.1:p.Gln957Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*194C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.451C>T
  hgvsp: ENSP00000446341.1:p.Gln151Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.55C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.501C>T
  hgvsp: ENSP00000468167.1:p.Gln168Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*254C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2986C>T
  hgvsp: ENSP00000465372.1:p.Gln996Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1245C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1021Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-1906640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906640
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 32176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2865G>A
  hgvsp: ENST00000588077.1:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.447G>A
  hgvsp: ENST00000538450.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.187G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2865G>A
  hgvsp: ENST00000585708.1:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.84G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2982G>A
  hgvsp: ENST00000587995.1:c.2982G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1241G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3057G>A
  hgvsp: ENST00000382722.5:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.51G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.492G>A
  hgvsp: ENST00000538027.2:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3057G>A
  hgvsp: ENST00000586184.1:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*250G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3887G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.497G>A
  hgvsp: ENST00000536846.2:c.497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1019Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-1906645-A-ATGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906648
    reference: chr 12
allele count: 2
allele frequency: 6.192717364379489e-5
allele num: 32296
alternate allele: ATGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3051_3052insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2859_2860insACA
  hgvsp: ENSP00000468530.1:p.Val953_Phe954insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2976_2977insACA
  hgvsp: ENSP00000465372.1:p.Val992_Phe993insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.45_46insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.441_442insACA
  hgvsp: ENSP00000446341.1:p.Val147_Phe148insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*184_*185insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.181_182insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2859_2860insACA
  hgvsp: ENSP00000467697.1:p.Val953_Phe954insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.486_487insACA
  hgvsp: ENSP00000443038.2:p.Val162_Phe163insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*244_*245insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.78_79insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3051_3052insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.491_492insACA
  hgvsp: ENSP00000468167.1:p.Val164_Phe165insThr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*244_*245insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*244_*245insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1235_*1236insACA
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3881_3882insACA
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1017_Phe1018insThr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-1906656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906656
    reference: chr 12
allele count: 1
allele frequency: 3.07181913128955e-5
allele num: 32554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2849A>G
  hgvsp: ENSP00000467697.1:p.Glu950Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2966A>G
  hgvsp: ENSP00000465372.1:p.Glu989Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.68A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.431A>G
  hgvsp: ENSP00000446341.1:p.Glu144Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*174A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1225A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3871A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.481A>G
  hgvsp: ENSP00000468167.1:p.Glu161Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3041A>G
  hgvsp: ENSP00000465060.1:p.Glu1014Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2849A>G
  hgvsp: ENSP00000468530.1:p.Glu950Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*234A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.171A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3041A>G
  hgvsp: ENSP00000372169.4:p.Glu1014Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.476A>G
  hgvsp: ENSP00000443038.2:p.Glu159Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.35A>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1014Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-1906659-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906659
    reference: chr 12
allele count: 2
allele frequency: 6.191183754333828e-5
allele num: 32304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*171C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2963C>G
  hgvsp: ENSP00000465372.1:p.Thr988Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3038C>G
  hgvsp: ENSP00000372169.4:p.Thr1013Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3038C>G
  hgvsp: ENSP00000465060.1:p.Thr1013Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2846C>G
  hgvsp: ENSP00000467697.1:p.Thr949Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.428C>G
  hgvsp: ENSP00000446341.1:p.Thr143Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.65C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.168C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.478C>G
  hgvsp: ENSP00000468167.1:p.Thr160Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*231C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.473C>G
  hgvsp: ENSP00000443038.2:p.Thr158Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2846C>G
  hgvsp: ENSP00000468530.1:p.Thr949Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*231C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*231C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.32C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1222C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3868C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1013Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-1906659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906659
    reference: chr 12
allele count: 1
allele frequency: 3.095591877166914e-5
allele num: 32304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.473C>A
  hgvsp: ENSP00000443038.2:p.Thr158Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2846C>A
  hgvsp: ENSP00000468530.1:p.Thr949Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.478C>A
  hgvsp: ENSP00000468167.1:p.Thr160Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.428C>A
  hgvsp: ENSP00000446341.1:p.Thr143Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3868C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*171C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*231C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3038C>A
  hgvsp: ENSP00000465060.1:p.Thr1013Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2963C>A
  hgvsp: ENSP00000465372.1:p.Thr988Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.168C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.65C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1222C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3038C>A
  hgvsp: ENSP00000372169.4:p.Thr1013Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2846C>A
  hgvsp: ENSP00000467697.1:p.Thr949Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.32C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*231C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*231C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1013Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-1906663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906663
    reference: chr 12
allele count: 13
allele frequency: 4.060977133574909e-4
allele num: 32012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.474G>A
  hgvsp: ENSP00000468167.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3034G>A
  hgvsp: ENSP00000372169.4:p.Asp1012Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.424G>A
  hgvsp: ENSP00000446341.1:p.Asp142Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3034G>A
  hgvsp: ENSP00000465060.1:p.Asp1012Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.28G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.469G>A
  hgvsp: ENSP00000443038.2:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2842G>A
  hgvsp: ENSP00000467697.1:p.Asp948Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2842G>A
  hgvsp: ENSP00000468530.1:p.Asp948Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1218G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2959G>A
  hgvsp: ENSP00000465372.1:p.Asp987Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3864G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.164G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*227G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.61G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31577
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Asp1012Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-1906664-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906664
    reference: chr 12
allele count: 2
allele frequency: 6.330716637123322e-5
allele num: 31592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*226C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1217C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2841C>A
  hgvsp: ENSP00000467697.1:p.Cys947Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.473C>A
  hgvsp: ENSP00000468167.1:p.Cys158Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3033C>A
  hgvsp: ENSP00000465060.1:p.Cys1011Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2841C>A
  hgvsp: ENSP00000468530.1:p.Cys947Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.468C>A
  hgvsp: ENSP00000443038.2:p.Cys156Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.423C>A
  hgvsp: ENSP00000446341.1:p.Cys141Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2958C>A
  hgvsp: ENSP00000465372.1:p.Cys986Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3033C>A
  hgvsp: ENSP00000372169.4:p.Cys1011Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.27C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*226C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.60C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*226C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*166C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3863C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.163C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1011Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-1906679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906679
    reference: chr 12
allele count: 1
allele frequency: 3.364963994885255e-5
allele num: 29718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.12C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2943C>T
  hgvsp: ENST00000587995.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3018C>T
  hgvsp: ENST00000382722.5:c.3018C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.458C>T
  hgvsp: ENST00000536846.2:c.458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.408C>T
  hgvsp: ENST00000538450.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3018C>T
  hgvsp: ENST00000586184.1:c.3018C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2826C>T
  hgvsp: ENST00000588077.1:c.2826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2826C>T
  hgvsp: ENST00000585708.1:c.2826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3848C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.148C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1202C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.45C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.453C>T
  hgvsp: ENST00000538027.2:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*211C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp1006Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-1906685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906685
    reference: chr 12
allele count: 3
allele frequency: 1.04704732653916e-4
allele num: 28652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2820G>A
  hgvsp: ENST00000588077.1:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3842G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3012G>A
  hgvsp: ENST00000586184.1:c.3012G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.39G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.402G>A
  hgvsp: ENST00000538450.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.142G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2820G>A
  hgvsp: ENST00000585708.1:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.447G>A
  hgvsp: ENST00000538027.2:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3012G>A
  hgvsp: ENST00000382722.5:c.3012G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*205G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.452G>A
  hgvsp: ENST00000536846.2:c.452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2937G>A
  hgvsp: ENST00000587995.1:c.2937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1196G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.6G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1004Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-1906687-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906687
    reference: chr 12
allele count: 6
allele frequency: 2.118943353581014e-4
allele num: 28316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*203A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2818A>C
  hgvsp: ENSP00000467697.1:p.Lys940Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000536818
  gene symbol: CACNA2D4
  hgvsc: ENST00000536818.2:n.4A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.400A>C
  hgvsp: ENSP00000446341.1:p.Lys134Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*203A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2935A>C
  hgvsp: ENSP00000465372.1:p.Lys979Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2818A>C
  hgvsp: ENSP00000468530.1:p.Lys940Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.445A>C
  hgvsp: ENSP00000443038.2:p.Lys149Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.37A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.3010A>C
  hgvsp: ENSP00000465060.1:p.Lys1004Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1194A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.140A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3840A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*203A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*143A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.3010A>C
  hgvsp: ENSP00000372169.4:p.Lys1004Gln
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.450A>C
  hgvsp: ENSP00000468167.1:p.Lys151Gln
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1004Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-1906700-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906700
    reference: chr 12
allele count: 1
allele frequency: 4.185501423070484e-5
allele num: 23892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.387C>A
  hgvsp: ENST00000538450.1:c.387C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2997C>A
  hgvsp: ENST00000382722.5:c.2997C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*190C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2997C>A
  hgvsp: ENST00000586184.1:c.2997C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3827C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*190C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.127C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2922C>A
  hgvsp: ENST00000587995.1:c.2922C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2805C>A
  hgvsp: ENST00000588077.1:c.2805C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2805C>A
  hgvsp: ENST00000585708.1:c.2805C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1181C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*130C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.432C>A
  hgvsp: ENST00000538027.2:c.432C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*190C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.437C>A
  hgvsp: ENST00000536846.2:c.437C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.24C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2997C>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

12-1906703-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906703
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.21A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.124A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-2A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-2A>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2996-2A>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-1906709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906709
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906709
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.15G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.118G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-8G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-8G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2996-8G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-1906712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906712
    reference: chr 12
allele count: 1
allele frequency: 4.533502584096473e-5
allele num: 22058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.115T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.12T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-11T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-11T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-1906719-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906719
    reference: chr 12
allele count: 1
allele frequency: 4.751045229950589e-5
allele num: 21048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.108T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000543405
  gene symbol: CACNA2D4
  hgvsc: ENST00000543405.1:n.5T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-18T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-18T>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-1906724-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906724
    reference: chr 12
allele count: 1
allele frequency: 4.822530864197531e-5
allele num: 20736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.103T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-23T>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-23T>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

12-1906725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906725
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906725
    reference: chr 12
allele count: 9
allele frequency: 4.331087584215592e-4
allele num: 20780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.102G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-24G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-1906732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906732
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.95C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-31C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-31C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-1906741-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906741
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.86A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-40A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-40A>C
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34663
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-1906745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906745
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906745
    reference: chr 12
allele count: 1
allele frequency: 4.971661529283086e-5
allele num: 20114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.82C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-44C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-44C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-1906751-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1906751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1906751
    reference: chr 12
allele count: 5
allele frequency: 2.49500998003992e-4
allele num: 20040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2921-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1180-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.436-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3826-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2996-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2996-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2804-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*189-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000541444
  gene symbol: CACNA2D4
  hgvsc: ENST00000541444.1:n.76C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*189-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.431-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2804-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*189-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*129-50C>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.386-50C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-1908793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908793
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+48G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+48G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-1908794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908794
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+47C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+47C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26330
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-1908804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908804
    reference: chr 12
allele count: 1
allele frequency: 3.861600247142416e-5
allele num: 25896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+37G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+37G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-1908806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908806
    reference: chr 12
allele count: 5
allele frequency: 1.925001925001925e-4
allele num: 25974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+35G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+35G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20731
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-1908808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908808
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908808
    reference: chr 12
allele count: 95
allele frequency: 3.645713408550157e-3
allele num: 26058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+33C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+33C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-1908818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908818
    reference: chr 12
allele count: 1
allele frequency: 3.777861730260673e-5
allele num: 26470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+23T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+23T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

12-1908827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908827
    reference: chr 12
allele count: 1
allele frequency: 3.703978072449811e-5
allele num: 26998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+14C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+14C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25010
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-1908833-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908833
    reference: chr 12
allele count: 1
allele frequency: 3.649901452660778e-5
allele num: 27398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*188+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*128+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2920+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2803+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2803+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.435+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.430+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2995+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*188+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1179+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2995+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*188+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.385+8G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3825+8G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2995+8G>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-1908849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908849
    reference: chr 12
allele count: 249
allele frequency: 8.620689655172414e-3
allele num: 28884
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.377T>C
  hgvsp: ENSP00000446341.1:p.Phe126Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*120T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3817T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2987T>C
  hgvsp: ENSP00000465060.1:p.Phe996Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.427T>C
  hgvsp: ENSP00000468167.1:p.Phe143Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2912T>C
  hgvsp: ENSP00000465372.1:p.Phe971Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2795T>C
  hgvsp: ENSP00000467697.1:p.Phe932Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.673T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2987T>C
  hgvsp: ENSP00000372169.4:p.Phe996Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1171T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2795T>C
  hgvsp: ENSP00000468530.1:p.Phe932Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*180T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.422T>C
  hgvsp: ENSP00000443038.2:p.Phe141Ser
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*180T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*180T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 27730
  bin: 7.5e0
  variant carriers: 160
genotype quality: GenotypeQuality
hgvs: p.Phe996Ser
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-1908864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908864
    reference: chr 12
allele count: 1
allele frequency: 3.415767181308922e-5
allele num: 29276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3802C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-3C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.658C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-3C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2975-3C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-1908867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908867
    reference: chr 12
allele count: 1
allele frequency: 3.408548639989093e-5
allele num: 29338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3799G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.655G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-13G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-6G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-6G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2975-6G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-1908868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908868
    reference: chr 12
allele count: 4
allele frequency: 1.365280906546522e-4
allele num: 29298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.654C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3798C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-7C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-14C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25933
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2975-7C>T
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-1908878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908878
    reference: chr 12
allele count: 2
allele frequency: 6.783800284919612e-5
allele num: 29482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.644G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-24G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3788G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-17G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-17G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-1908896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908896
    reference: chr 12
allele count: 190
allele frequency: 6.351116459419708e-3
allele num: 29916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.626G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3770G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-42G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-35G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19610
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 2
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-1908911-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1908911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1908912
    reference: chr 12
allele count: 1
allele frequency: 3.391209983722192e-5
allele num: 29488
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2900-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3754dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.415-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*168-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-58dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.610dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1159-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.365-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*168-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2783-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.410-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*168-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2975-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2975-51dupC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2783-51dupC
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19308
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-1909118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909118
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 55566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-264T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3548T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.404T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+48T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+48T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25785
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-1909123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909123
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909123
    reference: chr 12
allele count: 1
allele frequency: 1.803036313151347e-5
allele num: 55462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.399G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-269G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3543G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+43G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+43G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-1909141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909141
    reference: chr 12
allele count: 1
allele frequency: 1.744044089434581e-5
allele num: 57338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.381A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3525A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-287A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+25A>G
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+25A>G
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-1909144-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909144
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 57618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-290G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3522G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.378G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+22G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+22G>T
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

12-1909155-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909155
    reference: chr 12
allele count: 1
allele frequency: 1.674424835069154e-5
allele num: 59722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3511G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.367G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+11G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-301G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+11G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-1909155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909155
    reference: chr 12
allele count: 2
allele frequency: 3.348849670138308e-5
allele num: 59722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.367G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3511G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-301G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+11G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-1909156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909156
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909156
    reference: chr 12
allele count: 1
allele frequency: 1.669504824868944e-5
allele num: 59898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3510C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.366C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-302C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+10C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+10C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-1909160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909160
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909160
    reference: chr 12
allele count: 1
allele frequency: 1.644520457834496e-5
allele num: 60808
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2974+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2899+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2974+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1158+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2782+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.364+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.414+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*167+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*167+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*167+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.362T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.409+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2782+6T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-306T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3506T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2974+6T>C
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-1909168-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909169
    reference: chr 12
allele count: 1
allele frequency: 1.604621309370989e-5
allele num: 62320
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.411dupG
  hgvsp: ENSP00000468167.1:p.Glu138GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.406dupG
  hgvsp: ENSP00000443038.2:p.Glu136GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2896dupG
  hgvsp: ENSP00000465372.1:p.Glu966GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*164dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.361dupG
  hgvsp: ENSP00000446341.1:p.Glu121GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.353dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1155dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2779dupG
  hgvsp: ENSP00000467697.1:p.Glu927GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*164dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2779dupG
  hgvsp: ENSP00000468530.1:p.Glu927GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*164dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2971dupG
  hgvsp: ENSP00000465060.1:p.Glu991GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2971dupG
  hgvsp: ENSP00000372169.4:p.Glu991GlyfsTer59
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-315dupG
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3497dupG
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu991GlyfsTer59
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-1909169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909169
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909169
    reference: chr 12
allele count: 11
allele frequency: 1.760957961130855e-4
allele num: 62466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3497G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1155G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-315G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2896G>A
  hgvsp: ENSP00000465372.1:p.Glu966Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*164G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2971G>A
  hgvsp: ENSP00000465060.1:p.Glu991Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2971G>A
  hgvsp: ENSP00000372169.4:p.Glu991Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.353G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.361G>A
  hgvsp: ENSP00000446341.1:p.Glu121Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.406G>A
  hgvsp: ENSP00000443038.2:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2779G>A
  hgvsp: ENSP00000467697.1:p.Glu927Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2779G>A
  hgvsp: ENSP00000468530.1:p.Glu927Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.411G>A
  hgvsp: ENSP00000468167.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu991Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-1909170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1909170
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1909170
    reference: chr 12
allele count: 3
allele frequency: 4.788354721317755e-5
allele num: 62652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000280663
  gene symbol: CACNA2D4
  hgvsc: ENST00000280663.8:n.3496C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000446341
  ensembl transcript: ENST00000538450
  gene symbol: CACNA2D4
  hgvsc: ENST00000538450.1:c.360C>T
  hgvsp: ENST00000538450.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000442329
  ensembl transcript: ENST00000545595
  gene symbol: CACNA2D4
  hgvsc: ENST00000545595.2:c.*163C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.2970C>T
  hgvsp: ENST00000382722.5:c.2970C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000443038
  ensembl transcript: ENST00000538027
  gene symbol: CACNA2D4
  hgvsc: ENST00000538027.2:c.405C>T
  hgvsp: ENST00000538027.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.2970C>T
  hgvsp: ENST00000586184.1:c.2970C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.2778C>T
  hgvsp: ENST00000585708.1:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.2778C>T
  hgvsp: ENST00000588077.1:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.*1154C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467333
  ensembl transcript: ENST00000585385
  gene symbol: CACNA2D4
  hgvsc: ENST00000585385.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151062
  ensembl transcript: ENST00000589502
  gene symbol: CACNA2D4
  hgvsc: ENST00000589502.1:n.352C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468167
  ensembl transcript: ENST00000536846
  gene symbol: CACNA2D4
  hgvsc: ENST00000536846.2:c.410C>T
  hgvsp: ENST00000536846.2:c.410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.2895C>T
  hgvsp: ENST00000587995.1:c.2895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000464949
  ensembl transcript: ENST00000537923
  gene symbol: CACNA2D4
  hgvsc: ENST00000537923.1:c.*115-316C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000440231
  ensembl transcript: ENST00000537784
  gene symbol: CACNA2D4
  hgvsc: ENST00000537784.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala990Ala
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1581
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17103
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 269
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1529
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 12089
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16514
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2960
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8291
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.355707528695809e-4
allele num: 66386
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 1.157e0

QD
type: SiteQuality
SIO_000300: 1.486e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.777844e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeDepth
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 179
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1031
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4572
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29868
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.25917e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1141
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1046
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31973
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.461e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.21e-2

QD
type: SiteQuality
SIO_000300: 7.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

DP
type: SiteQuality
SIO_000300: 4.28476e5

GenotypeDepth
all individuals: 1031
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 1.75e1
variant carriers: 7

GenotypeDepth
all individuals: 8263
bin: 7.5e0
variant carriers: 38

GenotypeDepth
all individuals: 31711
bin: 2.5e0
variant carriers: 13

GenotypeDepth
all individuals: 113
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 656
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 180
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 556
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32085
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 958
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1783
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2521
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3131
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1205
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 2.870090634441088e-2
allele num: 1324
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 4.28886e5

FS
type: SiteQuality
SIO_000300: 3.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 5192
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 9.370000000000001e-1

QD
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SIO_000300: 1.162e1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.73581e5

InbreedingCoeff
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SIO_000300: -5.1e-2

VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 7.27e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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SIO_000300: 1.092e1

ReadPosRankSum
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SIO_000300: 7.36e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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African
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Other
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European (Finnish)
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -7.36e-1

MQ
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SIO_000300: 6.0e1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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South Asian
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African
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European (Non-Finnish)
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allele num: 10544
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European (Finnish)
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
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Other
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South Asian
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allele frequency: 0.0e0
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African
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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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allele count: 0
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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East Asian
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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Latino
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 6.64281e5

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 984
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 218
bin: 5.25e1
variant carriers: 10

GenotypeDepth
all individuals: 8088
bin: 2.5e0
variant carriers: 13

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1399
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 6474
bin: 2.25e1
variant carriers: 38

GenotypeDepth
all individuals: 9
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 3112
bin: 1.25e1
variant carriers: 258

GenotypeDepth
all individuals: 408
bin: 4.75e1
variant carriers: 5

GenotypeDepth
all individuals: 653
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 186
bin: 9.75e1
variant carriers: 182

GenotypeDepth
all individuals: 115
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1396
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 596
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 34773
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1690
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 34

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 585
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8078
bin: 6.25e1
variant carriers: 24

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 545
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 475
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 7996
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 511
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 28

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 982
bin: 9.75e1
variant carriers: 595

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 17

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 32

European (Non-Finnish)
type: Population
allele count: 354
allele frequency: 2.238239757207891e-2
allele num: 15816
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.434782608695652e-3
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 4.391891891891892e-3
allele num: 2960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 1.263537906137184e-2
allele num: 1662
num of homozygotes: 0

South Asian
type: Population
allele count: 267
allele frequency: 3.023097826086956e-2
allele num: 8832
num of homozygotes: 10

Other
type: Population
allele count: 6
allele frequency: 2.380952380952381e-2
allele num: 252
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 6.91521e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

GenotypeDepth
all individuals: 1405
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3217
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variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8111
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1889
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variant carriers: 0

GenotypeDepth
all individuals: 983
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variant carriers: 0

GenotypeDepth
all individuals: 565
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variant carriers: 0

GenotypeDepth
all individuals: 114
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variant carriers: 0

GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeDepth
all individuals: 153
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variant carriers: 1

GenotypeDepth
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 35269
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variant carriers: 0

GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1432
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variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 8040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.142857142857143e-4
allele num: 8750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.87893e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -8.013e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8227
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 615
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 6190
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variant carriers: 0

GenotypeDepth
all individuals: 114
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variant carriers: 0

GenotypeDepth
all individuals: 411
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variant carriers: 0

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
all individuals: 214
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variant carriers: 0

GenotypeDepth
all individuals: 3496
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variant carriers: 0

GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 670
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variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 8204
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variant carriers: 0

GenotypeQuality
all individuals: 1700
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 35062
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

DP
type: SiteQuality
SIO_000300: 6.87332e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeDepth
all individuals: 986
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 651
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8764
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 214
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 3866
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 411
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variant carriers: 0

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
all individuals: 1958
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 7306
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variant carriers: 0

GenotypeQuality
all individuals: 34166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.239925604463732e-4
allele num: 16130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.791e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 6.81202e5

GenotypeDepth
all individuals: 60
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4495
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variant carriers: 0

GenotypeDepth
all individuals: 153
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GenotypeDepth
all individuals: 5268
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 10068
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variant carriers: 0

GenotypeDepth
all individuals: 627
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variant carriers: 0

GenotypeDepth
all individuals: 33250
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variant carriers: 0

GenotypeDepth
all individuals: 214
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GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeDepth
all individuals: 15
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GenotypeDepth
all individuals: 14
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GenotypeDepth
all individuals: 114
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 1

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 1771
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variant carriers: 0

GenotypeQuality
all individuals: 568
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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 33638
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variant carriers: 0

GenotypeQuality
all individuals: 785
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variant carriers: 0

GenotypeQuality
all individuals: 482
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GenotypeQuality
all individuals: 10077
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GenotypeQuality
all individuals: 363
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GenotypeQuality
all individuals: 682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7064
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.147792942333702e-5
allele num: 16266
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 4.655e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 6.73553e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
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variant carriers: 0

GenotypeDepth
all individuals: 612
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variant carriers: 0

GenotypeDepth
all individuals: 114
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variant carriers: 0

GenotypeDepth
all individuals: 4670
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variant carriers: 1

GenotypeDepth
all individuals: 32616
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 1955
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variant carriers: 0

GenotypeDepth
all individuals: 14
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GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeDepth
all individuals: 1421
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variant carriers: 0

GenotypeDepth
all individuals: 14
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GenotypeDepth
all individuals: 60
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GenotypeDepth
all individuals: 214
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GenotypeQuality
all individuals: 10793
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GenotypeQuality
all individuals: 1910
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variant carriers: 0

GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 6815
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variant carriers: 0

GenotypeQuality
all individuals: 1707
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 682
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variant carriers: 0

GenotypeQuality
all individuals: 616
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variant carriers: 2

GenotypeQuality
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 483
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 6.820566631689402e-3
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DP
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SIO_000300: 6.59806e5

VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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SIO_000300: 3.22e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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allele num: 8686
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Latino
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East Asian
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European (Finnish)
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Other
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QD
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FS
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Finnish)
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African
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Latino
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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ReadPosRankSum
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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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East Asian
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Latino
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African
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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allele frequency: 4.830917874396135e-3
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European (Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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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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allele frequency: 0.0e0
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QD
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.073191672032625e-4
allele num: 9318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.961e0

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -6.859999999999999e-2

ClippingRankSum
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SIO_000300: -7.45e-1

DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

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

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

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

Latino
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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
allele frequency: 1.095050372317127e-4
allele num: 9132
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -4.54e-1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 4.0e-3
allele num: 2250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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: 7990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
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SIO_000300: 1.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 3.059e0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.66482e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

ClippingRankSum
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BaseQRankSum
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QD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -7.22e-2

DP
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SIO_000300: 4.54354e5

ReadPosRankSum
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SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

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

Latino
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FS
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MQ
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VQSLOD
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DP
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QD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 5.747126436781609e-4
allele num: 8700
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Other
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.480550568521843e-5
allele num: 13368
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

VQSLOD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

DP
type: SiteQuality
SIO_000300: 6.79623e5

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13646
num of homozygotes: 0

South Asian
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allele num: 8064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.376e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 6.8852e5

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 27

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17

GenotypeQuality
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variant carriers: 11

African
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allele count: 6
allele frequency: 2.186588921282799e-3
allele num: 2744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 7.08502024291498e-3
allele num: 988
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 1.106639839034205e-2
allele num: 994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 216
allele frequency: 1.478237065425678e-2
allele num: 14612
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 3.937007874015748e-3
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.861932938856016e-4
allele num: 8112
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 7.13991e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 8.291873963515755e-4
allele num: 1206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

FS
type: SiteQuality
SIO_000300: 2.017e0

QD
type: SiteQuality
SIO_000300: 1.65e0

DP
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SIO_000300: 7.07734e5

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -3.738e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 8.278145695364238e-4
allele num: 1208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

InbreedingCoeff
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 7.06236e5

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

ReadPosRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.347164219318335e-4
allele num: 14846
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 9.900990099009901e-4
allele num: 1010
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.703703703703704e-3
allele num: 270
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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

DP
type: SiteQuality
SIO_000300: 7.06663e5

MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 9.88e-1

InbreedingCoeff
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SIO_000300: -3.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 5.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeDepth
all individuals: 25205
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2047
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
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variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18804
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 2.5e0
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GenotypeQuality
all individuals: 958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
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variant carriers: 2

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.98003992015968e-4
allele num: 1002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.668444918644971e-5
allele num: 14996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.892e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

VQSLOD
type: SiteQuality
SIO_000300: -2.04e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.99943e5

GenotypeDepth
all individuals: 24318
bin: 7.5e0
variant carriers: 123

GenotypeDepth
all individuals: 540
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 305
bin: 9.75e1
variant carriers: 34

GenotypeDepth
all individuals: 233
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variant carriers: 9

GenotypeDepth
all individuals: 1177
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variant carriers: 8

GenotypeDepth
all individuals: 89
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variant carriers: 6

GenotypeDepth
all individuals: 808
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variant carriers: 3

GenotypeDepth
all individuals: 438
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variant carriers: 7

GenotypeDepth
all individuals: 79
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variant carriers: 6

GenotypeQuality
all individuals: 19866
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 2952
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1495
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 443
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variant carriers: 15

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 9

GenotypeQuality
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bin: 2.25e1
variant carriers: 12

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1055
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4014
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 798
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variant carriers: 3

GenotypeQuality
all individuals: 881
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4035
bin: 9.75e1
variant carriers: 197

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2333
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 613
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 435
bin: 3.75e1
variant carriers: 1

South Asian
type: Population
allele count: 41
allele frequency: 5.030674846625767e-3
allele num: 8150
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 8.143322475570033e-4
allele num: 1228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 129
allele frequency: 8.45125786163522e-3
allele num: 15264
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 7.462686567164179e-3
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 2.444134078212291e-3
allele num: 2864
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.747126436781609e-3
allele num: 1044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 3.642987249544627e-3
allele num: 1098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.312e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 6.96075e5

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

GenotypeDepth
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24108
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 333
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variant carriers: 0

GenotypeDepth
all individuals: 437
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variant carriers: 0

GenotypeDepth
all individuals: 88
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variant carriers: 0

GenotypeDepth
all individuals: 106
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variant carriers: 0

GenotypeDepth
all individuals: 809
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variant carriers: 0

GenotypeDepth
all individuals: 3951
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variant carriers: 2

GenotypeDepth
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 971
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variant carriers: 0

GenotypeQuality
all individuals: 292
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GenotypeQuality
all individuals: 1041
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variant carriers: 0

GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
all individuals: 937
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variant carriers: 0

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 9737
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variant carriers: 2

GenotypeQuality
all individuals: 1739
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variant carriers: 0

GenotypeQuality
all individuals: 18453
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variant carriers: 1

GenotypeQuality
all individuals: 3191
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variant carriers: 1

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 5698
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variant carriers: 0

GenotypeQuality
all individuals: 8562
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variant carriers: 0

GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 724
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variant carriers: 1

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 803
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variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.667555674089879e-5
allele num: 14998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.608e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 6.96054e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2881
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13350
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variant carriers: 0

GenotypeDepth
all individuals: 656
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 4375
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variant carriers: 0

GenotypeDepth
all individuals: 195
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GenotypeDepth
all individuals: 156
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GenotypeQuality
all individuals: 1233
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variant carriers: 0

GenotypeQuality
all individuals: 823
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GenotypeQuality
all individuals: 627
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GenotypeQuality
all individuals: 341
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 670
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GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 604
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GenotypeQuality
all individuals: 3067
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1517
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GenotypeQuality
all individuals: 2708
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6526
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variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.018e-1

DP
type: SiteQuality
SIO_000300: 7.98078e5

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.36e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.589e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 419
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
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variant carriers: 0

GenotypeDepth
all individuals: 157
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variant carriers: 0

GenotypeDepth
all individuals: 1638
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variant carriers: 0

GenotypeDepth
all individuals: 25890
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variant carriers: 0

GenotypeDepth
all individuals: 301
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variant carriers: 0

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 58
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 3750
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GenotypeQuality
all individuals: 5066
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 655
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GenotypeQuality
all individuals: 4592
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1116
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variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.263281555932646e-5
allele num: 30644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.097e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 8.05894e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 2.498e0

QD
type: SiteQuality
SIO_000300: 1.672e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

GenotypeDepth
all individuals: 686
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1854
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variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
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GenotypeDepth
all individuals: 84
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variant carriers: 0

GenotypeDepth
all individuals: 272
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variant carriers: 0

GenotypeDepth
all individuals: 157
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variant carriers: 0

GenotypeDepth
all individuals: 89
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GenotypeDepth
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 3.75e1
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GenotypeQuality
all individuals: 7311
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GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 1277
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variant carriers: 0

GenotypeQuality
all individuals: 525
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 905
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3733
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GenotypeQuality
all individuals: 1416
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3454
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variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.056766762649116e-4
allele num: 4862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

DP
type: SiteQuality
SIO_000300: 8.61133e5

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

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

European (Finnish)
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East Asian
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South Asian
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Latino
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African
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Other
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QD
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MQ
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VQSLOD
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FS
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26547
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1883
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 955
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11831
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.150814201047241e-4
allele num: 34758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.990415335463259e-4
allele num: 10016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.523977788995457e-4
allele num: 3962
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 9.41051e5

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26506
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1050
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1835
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.25e1
variant carriers: 0