12-1988228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988228
    reference: chr 12
allele count: 2
allele frequency: 1.703026277695465e-5
allele num: 117438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1372-26C>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.1564-26C>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.1564-26C>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.1372-26C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1219-26C>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.1564-26C>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.1564-26C>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.1757-26C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-1988232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988232
    reference: chr 12
allele count: 1
allele frequency: 8.529657619543152e-6
allele num: 117238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1564-30C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1219-30C>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.1564-30C>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.1564-30C>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.1564-30C>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.1372-30C>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.1372-30C>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.1757-30C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28799
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-1988239-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988239
    reference: chr 12
allele count: 1
allele frequency: 8.582217645039478e-6
allele num: 116520
alternate allele: A
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.1757-37G>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.1564-37G>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.1372-37G>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.1564-37G>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.1372-37G>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.1564-37G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1219-37G>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.1564-37G>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-1988246-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988246
    reference: chr 12
allele count: 1
allele frequency: 8.653962649497205e-6
allele num: 115554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1372-44C>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.1564-44C>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.1564-44C>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.1564-44C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1219-44C>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.1757-44C>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.1372-44C>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.1564-44C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14089
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-1988921-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988921
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 32256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1371+49C>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.1563+49C>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.1563+49C>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.1563+49C>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.1371+49C>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.1563+49C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+49C>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.1756+49C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25875
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

12-1988936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988936
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 32884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1371+34G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+34G>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.1563+34G>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.1756+34G>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.1371+34G>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.1563+34G>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.1563+34G>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.1563+34G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12342
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

12-1988939-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988939
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988939
    reference: chr 12
allele count: 1
allele frequency: 2.98971537909591e-5
allele num: 33448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1371+31A>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.1371+31A>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+31A>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.1563+31A>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.1563+31A>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.1563+31A>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.1756+31A>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.1563+31A>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11680
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

12-1988943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988943
    reference: chr 12
allele count: 1
allele frequency: 2.933927942729726e-5
allele num: 34084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1371+27T>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.1563+27T>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.1563+27T>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.1563+27T>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.1371+27T>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.1756+27T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+27T>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.1563+27T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-1988947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988947
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988947
    reference: chr 12
allele count: 4
allele frequency: 1.148369315571888e-4
allele num: 34832
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.1563+23G>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.1563+23G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+23G>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.1563+23G>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.1371+23G>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.1371+23G>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.1563+23G>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.1756+23G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10352
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9309
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-1988959-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988959
    reference: chr 12
allele count: 27
allele frequency: 7.050344683517861e-4
allele num: 38296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+11G>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.1563+11G>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.1563+11G>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.1371+11G>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.1371+11G>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.1563+11G>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.1563+11G>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.1756+11G>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34323
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6061
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-1988959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988959
    reference: chr 12
allele count: 1
allele frequency: 2.611238771673282e-5
allele num: 38296
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.1563+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.1563+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.1563+11G>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.1371+11G>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.1756+11G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218+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.1371+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.1563+11G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34323
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-1988970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988970
    reference: chr 12
allele count: 36
allele frequency: 8.188517878264034e-4
allele num: 43964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1218G>A
  hgvsp: ENST00000585732.1:c.1218G>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.1756G>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.1563G>A
  hgvsp: ENST00000587995.1:c.1563G>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.1371G>A
  hgvsp: ENST00000585708.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_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.1563G>A
  hgvsp: ENST00000444595.2:c.1563G>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.1563G>A
  hgvsp: ENST00000382722.5:c.1563G>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.1371G>A
  hgvsp: ENST00000588077.1:c.1371G>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: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1563G>A
  hgvsp: ENST00000586184.1:c.1563G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33779
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 1
hgvs: c.1563G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-1988971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988971
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988971
    reference: chr 12
allele count: 10
allele frequency: 2.242655303879794e-4
allele num: 44590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1562C>T
  hgvsp: ENSP00000465060.1:p.Thr521Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1217C>T
  hgvsp: ENSP00000468080.1:p.Thr406Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1562C>T
  hgvsp: ENSP00000372169.4:p.Thr521Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1370C>T
  hgvsp: ENSP00000467697.1:p.Thr457Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.1562C>T
  hgvsp: ENSP00000465372.1:p.Thr521Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_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.1562C>T
  hgvsp: ENSP00000403371.2:p.Thr521Met
  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.1755C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1370C>T
  hgvsp: ENSP00000468530.1:p.Thr457Met
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr521Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-1988975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988975
    reference: chr 12
allele count: 7
allele frequency: 1.514233797698365e-4
allele num: 46228
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.1558G>A
  hgvsp: ENSP00000465372.1:p.Glu520Lys
  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.1558G>A
  hgvsp: ENSP00000372169.4:p.Glu520Lys
  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.1558G>A
  hgvsp: ENSP00000465060.1:p.Glu520Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1213G>A
  hgvsp: ENSP00000468080.1:p.Glu405Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1558G>A
  hgvsp: ENSP00000403371.2:p.Glu520Lys
  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.1366G>A
  hgvsp: ENSP00000467697.1:p.Glu456Lys
  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.1366G>A
  hgvsp: ENSP00000468530.1:p.Glu456Lys
  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.1751G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu520Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-1988976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988976
    reference: chr 12
allele count: 8
allele frequency: 1.703214817968916e-4
allele num: 46970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1365C>T
  hgvsp: ENST00000585708.1:c.1365C>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.1557C>T
  hgvsp: ENST00000587995.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1212C>T
  hgvsp: ENST00000585732.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1557C>T
  hgvsp: ENST00000444595.2:c.1557C>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.1750C>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.1365C>T
  hgvsp: ENST00000588077.1:c.1365C>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.1557C>T
  hgvsp: ENST00000586184.1:c.1557C>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.1557C>T
  hgvsp: ENST00000382722.5:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9680
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn519Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-1988993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1988993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1988993
    reference: chr 12
allele count: 1
allele frequency: 1.904471699550545e-5
allele num: 52508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1348G>A
  hgvsp: ENSP00000468530.1:p.Val450Ile
  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.1348G>A
  hgvsp: ENSP00000467697.1:p.Val450Ile
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1195G>A
  hgvsp: ENSP00000468080.1:p.Val399Ile
  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.1540G>A
  hgvsp: ENSP00000465372.1:p.Val514Ile
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1540G>A
  hgvsp: ENSP00000403371.2:p.Val514Ile
  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.1540G>A
  hgvsp: ENSP00000372169.4:p.Val514Ile
  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.1540G>A
  hgvsp: ENSP00000465060.1:p.Val514Ile
  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.1733G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val514Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-1989003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989003
    reference: chr 12
allele count: 1
allele frequency: 1.826817683595177e-5
allele num: 54740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1338G>A
  hgvsp: ENST00000585708.1:c.1338G>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.1530G>A
  hgvsp: ENST00000587995.1:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1185G>A
  hgvsp: ENST00000585732.1:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1530G>A
  hgvsp: ENST00000444595.2:c.1530G>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.1723G>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.1530G>A
  hgvsp: ENST00000586184.1:c.1530G>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.1530G>A
  hgvsp: ENST00000382722.5:c.1530G>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.1338G>A
  hgvsp: ENST00000588077.1:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val510Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-1989006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989006
    reference: chr 12
allele count: 1
allele frequency: 1.829759203688795e-5
allele num: 54652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1182T>C
  hgvsp: ENST00000585732.1:c.1182T>C(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.1527T>C
  hgvsp: ENST00000382722.5:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1527T>C
  hgvsp: ENST00000444595.2:c.1527T>C(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.1335T>C
  hgvsp: ENST00000588077.1:c.1335T>C(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.1335T>C
  hgvsp: ENST00000585708.1:c.1335T>C(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.1527T>C
  hgvsp: ENST00000586184.1:c.1527T>C(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.1527T>C
  hgvsp: ENST00000587995.1:c.1527T>C(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.1720T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr509Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

12-1989009-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989009
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989009
    reference: chr 12
allele count: 1
allele frequency: 1.80635838150289e-5
allele num: 55360
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.1332C>A
  hgvsp: ENST00000588077.1:c.1332C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1524C>A
  hgvsp: ENST00000444595.2:c.1524C>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.1717C>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.1524C>A
  hgvsp: ENST00000587995.1:c.1524C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1179C>A
  hgvsp: ENST00000585732.1:c.1179C>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.1524C>A
  hgvsp: ENST00000382722.5:c.1524C>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.1332C>A
  hgvsp: ENST00000585708.1:c.1332C>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.1524C>A
  hgvsp: ENST00000586184.1:c.1524C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Thr508Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

12-1989010-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989010
    reference: chr 12
allele count: 1
allele frequency: 1.804077214504781e-5
allele num: 55430
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.1523C>A
  hgvsp: ENSP00000465372.1:p.Thr508Asn
  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.1331C>A
  hgvsp: ENSP00000467697.1:p.Thr444Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1523C>A
  hgvsp: ENSP00000403371.2:p.Thr508Asn
  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.1331C>A
  hgvsp: ENSP00000468530.1:p.Thr444Asn
  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.1523C>A
  hgvsp: ENSP00000372169.4:p.Thr508Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1178C>A
  hgvsp: ENSP00000468080.1:p.Thr393Asn
  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.1716C>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.1523C>A
  hgvsp: ENSP00000465060.1:p.Thr508Asn
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr508Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-1989018-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989018
    reference: chr 12
allele count: 13083
allele frequency: 2.099797772285173e-1
allele num: 62306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1515A>G
  hgvsp: ENST00000382722.5:c.1515A>G(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.1708A>G
  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.1515A>G
  hgvsp: ENST00000587995.1:c.1515A>G(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.1323A>G
  hgvsp: ENST00000588077.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1170A>G
  hgvsp: ENST00000585732.1:c.1170A>G(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.1515A>G
  hgvsp: ENST00000586184.1:c.1515A>G(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.1323A>G
  hgvsp: ENST00000585708.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1515A>G
  hgvsp: ENST00000444595.2:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.75e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 1.75e1
  variant carriers: 2793
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 1.25e1
  variant carriers: 3731
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.25e1
  variant carriers: 1349
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 25413
  bin: 7.5e0
  variant carriers: 1942
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.5e0
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.75e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 322
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 163
hgvs: p.Thr505Thr
num of homozygotes: 1403
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-1989024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989024
    reference: chr 12
allele count: 24
allele frequency: 4.359831419851766e-4
allele num: 55048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1317C>T
  hgvsp: ENST00000585708.1:c.1317C>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.1509C>T
  hgvsp: ENST00000587995.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1164C>T
  hgvsp: ENST00000585732.1:c.1164C>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.1509C>T
  hgvsp: ENST00000586184.1:c.1509C>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.1509C>T
  hgvsp: ENST00000382722.5:c.1509C>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.1702C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1509C>T
  hgvsp: ENST00000444595.2:c.1509C>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.1317C>T
  hgvsp: ENST00000588077.1:c.1317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28663
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser503Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-1989025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989025
    reference: chr 12
allele count: 173
allele frequency: 3.157625757465138e-3
allele num: 54788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1316G>A
  hgvsp: ENSP00000467697.1:p.Ser439Asn
  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.1508G>A
  hgvsp: ENSP00000372169.4:p.Ser503Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1508G>A
  hgvsp: ENSP00000403371.2:p.Ser503Asn
  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.1701G>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.1508G>A
  hgvsp: ENSP00000465060.1:p.Ser503Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1163G>A
  hgvsp: ENSP00000468080.1:p.Ser388Asn
  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.1316G>A
  hgvsp: ENSP00000468530.1:p.Ser439Asn
  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.1508G>A
  hgvsp: ENSP00000465372.1:p.Ser503Asn
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28704
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Ser503Asn
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-1989029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989029
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989029
    reference: chr 12
allele count: 1
allele frequency: 1.880052641473961e-5
allele num: 53190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1159C>T
  hgvsp: ENSP00000468080.1:p.Gln387Ter
  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.1504C>T
  hgvsp: ENSP00000372169.4:p.Gln502Ter
  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.1504C>T
  hgvsp: ENSP00000465060.1:p.Gln502Ter
  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.1312C>T
  hgvsp: ENSP00000467697.1:p.Gln438Ter
  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.1312C>T
  hgvsp: ENSP00000468530.1:p.Gln438Ter
  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.1504C>T
  hgvsp: ENSP00000465372.1:p.Gln502Ter
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1504C>T
  hgvsp: ENSP00000403371.2:p.Gln502Ter
  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.1697C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln502Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

12-1989034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989034
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989034
    reference: chr 12
allele count: 2
allele frequency: 3.800402842701326e-5
allele num: 52626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1307A>G
  hgvsp: ENSP00000468530.1:p.Gln436Arg
  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.1499A>G
  hgvsp: ENSP00000465060.1:p.Gln500Arg
  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.1692A>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.1307A>G
  hgvsp: ENSP00000467697.1:p.Gln436Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1154A>G
  hgvsp: ENSP00000468080.1:p.Gln385Arg
  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.1499A>G
  hgvsp: ENSP00000465372.1:p.Gln500Arg
  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.1499A>G
  hgvsp: ENSP00000372169.4:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1499A>G
  hgvsp: ENSP00000403371.2:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28602
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33633
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln500Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-1989036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989036
    reference: chr 12
allele count: 10
allele frequency: 1.926411096127914e-4
allele num: 51910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1497G>A
  hgvsp: ENST00000586184.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1152G>A
  hgvsp: ENST00000585732.1:c.1152G>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.1305G>A
  hgvsp: ENST00000588077.1:c.1305G>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.1497G>A
  hgvsp: ENST00000382722.5:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1497G>A
  hgvsp: ENST00000444595.2:c.1497G>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.1305G>A
  hgvsp: ENST00000585708.1:c.1305G>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.1497G>A
  hgvsp: ENST00000587995.1:c.1497G>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.1690G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28447
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser499Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-1989036-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989035
    reference: chr 12
allele count: 1
allele frequency: 1.926411096127914e-5
allele num: 51910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1496delC
  hgvsp: ENSP00000403371.2:p.Ser499CysfsTer6
  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.1496delC
  hgvsp: ENSP00000465060.1:p.Ser499CysfsTer6
  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.1496delC
  hgvsp: ENSP00000372169.4:p.Ser499CysfsTer6
  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.1304delC
  hgvsp: ENSP00000468530.1:p.Ser435CysfsTer6
  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.1689delC
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1151delC
  hgvsp: ENSP00000468080.1:p.Ser384CysfsTer6
  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.1496delC
  hgvsp: ENSP00000465372.1:p.Ser499CysfsTer6
  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.1304delC
  hgvsp: ENSP00000467697.1:p.Ser435CysfsTer6
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5632
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33799
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser499CysfsTer6
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CG
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-1989037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989037
    reference: chr 12
allele count: 4
allele frequency: 7.886435331230284e-5
allele num: 50720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1151C>T
  hgvsp: ENSP00000468080.1:p.Ser384Leu
  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.1496C>T
  hgvsp: ENSP00000465060.1:p.Ser499Leu
  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.1304C>T
  hgvsp: ENSP00000468530.1:p.Ser435Leu
  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.1304C>T
  hgvsp: ENSP00000467697.1:p.Ser435Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1496C>T
  hgvsp: ENSP00000403371.2:p.Ser499Leu
  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.1689C>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.1496C>T
  hgvsp: ENSP00000465372.1:p.Ser499Leu
  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.1496C>T
  hgvsp: ENSP00000372169.4:p.Ser499Leu
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28186
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ser499Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-1989054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989054
    reference: chr 12
allele count: 1
allele frequency: 2.130923968632799e-5
allele num: 46928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-7C>G
  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.1294-7C>G
  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.1486-7C>G
  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.1486-7C>G
  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.1679-7C>G
  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.1294-7C>G
  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.1486-7C>G
  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.1486-7C>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31925
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1486-7C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-1989058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989058
    reference: chr 12
allele count: 1
allele frequency: 2.28133412419583e-5
allele num: 43834
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.1486-11C>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.1679-11C>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.1294-11C>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.1486-11C>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.1486-11C>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.1294-11C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-11C>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.1486-11C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

12-1989066-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989066
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989064
    reference: chr 12
allele count: 1
allele frequency: 2.370229912301493e-5
allele num: 42190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1294-21_1294-20delCT
  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.1294-21_1294-20delCT
  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.1679-21_1679-20delCT
  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.1486-21_1486-20delCT
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-21_1141-20delCT
  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.1486-21_1486-20delCT
  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.1486-21_1486-20delCT
  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.1486-21_1486-20delCT
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24959
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: CAG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-1989070-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989070
    reference: chr 12
allele count: 2
allele frequency: 5.076657528683115e-5
allele num: 39396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-23C>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.1486-23C>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.1486-23C>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.1294-23C>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.1486-23C>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.1486-23C>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.1679-23C>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.1294-23C>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-1989082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989082
    reference: chr 12
allele count: 2
allele frequency: 6.210022977085015e-5
allele num: 32206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1294-35G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-35G>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.1486-35G>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.1486-35G>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.1486-35G>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.1486-35G>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.1294-35G>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.1679-35G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-1989083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989083
    reference: chr 12
allele count: 1
allele frequency: 3.127736769673464e-5
allele num: 31972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1486-36C>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.1486-36C>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.1486-36C>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.1486-36C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-36C>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.1294-36C>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.1679-36C>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.1294-36C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

12-1989085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989085
    reference: chr 12
allele count: 1
allele frequency: 3.1750063500127e-5
allele num: 31496
alternate allele: G
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.1486-38G>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.1294-38G>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.1294-38G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-38G>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.1486-38G>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.1486-38G>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.1486-38G>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.1679-38G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-1989092-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1989092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1989092
    reference: chr 12
allele count: 1
allele frequency: 3.369272237196766e-5
allele num: 29680
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1486-45G>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.1486-45G>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1141-45G>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.1486-45G>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.1486-45G>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.1294-45G>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.1294-45G>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.1679-45G>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-1991987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1991987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1991987
    reference: chr 12
allele count: 1
allele frequency: 8.975210468685491e-6
allele num: 111418
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1485+46T>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.1293+46T>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.1485+46T>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.1678+46T>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.1485+46T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+46T>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.1485+46T>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.1293+46T>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-1991989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1991989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1991989
    reference: chr 12
allele count: 1
allele frequency: 8.977627751642906e-6
allele num: 111388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1293+44G>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.1678+44G>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.1485+44G>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.1485+44G>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.1485+44G>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.1485+44G>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.1293+44G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+44G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-1991991-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1991991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1991991
    reference: chr 12
allele count: 1
allele frequency: 8.965554340224856e-6
allele num: 111538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.1485+42G>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.1293+42G>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.1485+42G>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+42G>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.1485+42G>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.1678+42G>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.1293+42G>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.1485+42G>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

12-1991992-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1991992
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1991992
    reference: chr 12
allele count: 1
allele frequency: 8.954635814961405e-6
allele num: 111674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1293+41A>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.1485+41A>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.1485+41A>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+41A>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.1485+41A>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.1293+41A>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.1485+41A>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.1678+41A>C
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-1992004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992004
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992004
    reference: chr 12
allele count: 1
allele frequency: 8.888414840097417e-6
allele num: 112506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1293+29G>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.1485+29G>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.1485+29G>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.1485+29G>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.1485+29G>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.1678+29G>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.1293+29G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+29G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-1992006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992006
    reference: chr 12
allele count: 10
allele frequency: 8.877210425395924e-5
allele num: 112648
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.1485+27G>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.1293+27G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+27G>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.1485+27G>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.1485+27G>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.1293+27G>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.1678+27G>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.1485+27G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-1992007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992007
    reference: chr 12
allele count: 3
allele frequency: 2.657736671450593e-5
allele num: 112878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1293+26C>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.1485+26C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+26C>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.1678+26C>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.1485+26C>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.1293+26C>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.1485+26C>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.1485+26C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-1992030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992030
    reference: chr 12
allele count: 1
allele frequency: 8.626490226186574e-6
allele num: 115922
alternate allele: T
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.1293+3G>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.1485+3G>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1140+3G>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.1485+3G>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.1485+3G>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.1485+3G>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.1293+3G>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.1678+3G>A
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1485+3G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-1992037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992037
    reference: chr 12
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
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.1481G>A
  hgvsp: ENSP00000372169.4:p.Ser494Asn
  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.1289G>A
  hgvsp: ENSP00000468530.1:p.Ser430Asn
  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.1674G>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.1481G>A
  hgvsp: ENSP00000465372.1:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1481G>A
  hgvsp: ENSP00000403371.2:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1136G>A
  hgvsp: ENSP00000468080.1:p.Ser379Asn
  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.1289G>A
  hgvsp: ENSP00000467697.1:p.Ser430Asn
  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.1481G>A
  hgvsp: ENSP00000465060.1:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser494Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-1992049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992049
    reference: chr 12
allele count: 1
allele frequency: 8.544671542825894e-6
allele num: 117032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1124C>T
  hgvsp: ENSP00000468080.1:p.Ala375Val
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1469C>T
  hgvsp: ENSP00000403371.2:p.Ala490Val
  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.1277C>T
  hgvsp: ENSP00000468530.1:p.Ala426Val
  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.1469C>T
  hgvsp: ENSP00000465372.1:p.Ala490Val
  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.1662C>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.1469C>T
  hgvsp: ENSP00000465060.1:p.Ala490Val
  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.1277C>T
  hgvsp: ENSP00000467697.1:p.Ala426Val
  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.1469C>T
  hgvsp: ENSP00000372169.4:p.Ala490Val
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala490Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-1992068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992068
    reference: chr 12
allele count: 4
allele frequency: 3.431591228852819e-5
allele num: 116564
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.1450G>A
  hgvsp: ENSP00000372169.4:p.Asp484Asn
  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.1258G>A
  hgvsp: ENSP00000467697.1:p.Asp420Asn
  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.1643G>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.1258G>A
  hgvsp: ENSP00000468530.1:p.Asp420Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1450G>A
  hgvsp: ENSP00000403371.2:p.Asp484Asn
  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.1450G>A
  hgvsp: ENSP00000465060.1:p.Asp484Asn
  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.1450G>A
  hgvsp: ENSP00000465372.1:p.Asp484Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1105G>A
  hgvsp: ENSP00000468080.1:p.Asp369Asn
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp484Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-1992069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992069
    reference: chr 12
allele count: 5
allele frequency: 4.286914621808392e-5
allele num: 116634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1104C>T
  hgvsp: ENST00000585732.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1449C>T
  hgvsp: ENST00000444595.2:c.1449C>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.1642C>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.1449C>T
  hgvsp: ENST00000382722.5:c.1449C>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.1449C>T
  hgvsp: ENST00000587995.1:c.1449C>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.1257C>T
  hgvsp: ENST00000585708.1:c.1257C>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.1449C>T
  hgvsp: ENST00000586184.1:c.1449C>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.1257C>T
  hgvsp: ENST00000588077.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His483His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

12-1992072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992072
    reference: chr 12
allele count: 2
allele frequency: 1.715942824785078e-5
allele num: 116554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1101C>T
  hgvsp: ENST00000585732.1:c.1101C>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.1639C>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.1254C>T
  hgvsp: ENST00000585708.1:c.1254C>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.1254C>T
  hgvsp: ENST00000588077.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1446C>T
  hgvsp: ENST00000444595.2:c.1446C>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.1446C>T
  hgvsp: ENST00000587995.1:c.1446C>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.1446C>T
  hgvsp: ENST00000586184.1:c.1446C>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.1446C>T
  hgvsp: ENST00000382722.5:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp482Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

12-1992074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992074
    reference: chr 12
allele count: 2
allele frequency: 1.718331156780535e-5
allele num: 116392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1252G>A
  hgvsp: ENSP00000468530.1:p.Asp418Asn
  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.1444G>A
  hgvsp: ENSP00000465372.1:p.Asp482Asn
  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.1637G>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.1444G>A
  hgvsp: ENSP00000465060.1:p.Asp482Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1444G>A
  hgvsp: ENSP00000403371.2:p.Asp482Asn
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1099G>A
  hgvsp: ENSP00000468080.1:p.Asp367Asn
  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.1252G>A
  hgvsp: ENSP00000467697.1:p.Asp418Asn
  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.1444G>A
  hgvsp: ENSP00000372169.4:p.Asp482Asn
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp482Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

12-1992075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992075
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992075
    reference: chr 12
allele count: 3
allele frequency: 2.578249883978755e-5
allele num: 116358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1098C>T
  hgvsp: ENST00000585732.1:c.1098C>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.1251C>T
  hgvsp: ENST00000585708.1:c.1251C>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.1443C>T
  hgvsp: ENST00000587995.1:c.1443C>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.1443C>T
  hgvsp: ENST00000586184.1:c.1443C>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.1443C>T
  hgvsp: ENST00000382722.5:c.1443C>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.1251C>T
  hgvsp: ENST00000588077.1:c.1251C>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.1636C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1443C>T
  hgvsp: ENST00000444595.2:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32606
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His481His
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: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-1992076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992076
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992076
    reference: chr 12
allele count: 1
allele frequency: 8.5966782435267e-6
allele num: 116324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1442A>G
  hgvsp: ENSP00000372169.4:p.His481Arg
  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.1250A>G
  hgvsp: ENSP00000467697.1:p.His417Arg
  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.1442A>G
  hgvsp: ENSP00000465060.1:p.His481Arg
  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.1250A>G
  hgvsp: ENSP00000468530.1:p.His417Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1097A>G
  hgvsp: ENSP00000468080.1:p.His366Arg
  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.1442A>G
  hgvsp: ENSP00000465372.1:p.His481Arg
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1442A>G
  hgvsp: ENSP00000403371.2:p.His481Arg
  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.1635A>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His481Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-1992079-TTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992079
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992076
    reference: chr 12
allele count: 4
allele frequency: 3.446136880556896e-5
allele num: 116072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1244_1246delTCA
  hgvsp: ENSP00000467697.1:p.Ile415del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1436_1438delTCA
  hgvsp: ENSP00000403371.2:p.Ile479del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1436_1438delTCA
  hgvsp: ENSP00000372169.4:p.Ile479del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.1436_1438delTCA
  hgvsp: ENSP00000465372.1:p.Ile479del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1436_1438delTCA
  hgvsp: ENSP00000465060.1:p.Ile479del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1091_1093delTCA
  hgvsp: ENSP00000468080.1:p.Ile364del
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1244_1246delTCA
  hgvsp: ENSP00000468530.1:p.Ile415del
  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.1629_1631delTCA
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31863
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile479del
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TTGA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-1992081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992081
    reference: chr 12
allele count: 1
allele frequency: 8.628723294101405e-6
allele num: 115892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1092C>T
  hgvsp: ENST00000585732.1:c.1092C>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.1437C>T
  hgvsp: ENST00000586184.1:c.1437C>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.1245C>T
  hgvsp: ENST00000585708.1:c.1245C>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.1437C>T
  hgvsp: ENST00000587995.1:c.1437C>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.1630C>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.1437C>T
  hgvsp: ENST00000382722.5:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1437C>T
  hgvsp: ENST00000444595.2:c.1437C>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.1245C>T
  hgvsp: ENST00000588077.1:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile479Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-1992082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992082
    reference: chr 12
allele count: 2
allele frequency: 1.725536210377375e-5
allele num: 115906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1436T>C
  hgvsp: ENSP00000403371.2:p.Ile479Thr
  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.1244T>C
  hgvsp: ENSP00000467697.1:p.Ile415Thr
  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.1629T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1091T>C
  hgvsp: ENSP00000468080.1:p.Ile364Thr
  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.1436T>C
  hgvsp: ENSP00000465372.1:p.Ile479Thr
  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.1244T>C
  hgvsp: ENSP00000468530.1:p.Ile415Thr
  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.1436T>C
  hgvsp: ENSP00000465060.1:p.Ile479Thr
  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.1436T>C
  hgvsp: ENSP00000372169.4:p.Ile479Thr
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile479Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-1992088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992088
    reference: chr 12
allele count: 1
allele frequency: 8.679651425198764e-6
allele num: 115212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1238T>C
  hgvsp: ENSP00000467697.1:p.Met413Thr
  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.1238T>C
  hgvsp: ENSP00000468530.1:p.Met413Thr
  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.1430T>C
  hgvsp: ENSP00000465060.1:p.Met477Thr
  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.1430T>C
  hgvsp: ENSP00000372169.4:p.Met477Thr
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1430T>C
  hgvsp: ENSP00000403371.2:p.Met477Thr
  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.1623T>C
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1085T>C
  hgvsp: ENSP00000468080.1:p.Met362Thr
  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.1430T>C
  hgvsp: ENSP00000465372.1:p.Met477Thr
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met477Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

12-1992089-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992089
    reference: chr 12
allele count: 2
allele frequency: 1.739856635813209e-5
allele num: 114952
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.1237A>G
  hgvsp: ENSP00000467697.1:p.Met413Val
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1429A>G
  hgvsp: ENSP00000403371.2:p.Met477Val
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1084A>G
  hgvsp: ENSP00000468080.1:p.Met362Val
  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.1429A>G
  hgvsp: ENSP00000465372.1:p.Met477Val
  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.1429A>G
  hgvsp: ENSP00000372169.4:p.Met477Val
  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.1237A>G
  hgvsp: ENSP00000468530.1:p.Met413Val
  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.1622A>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.1429A>G
  hgvsp: ENSP00000465060.1:p.Met477Val
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29349
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37798
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met477Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-1992095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992095
    reference: chr 12
allele count: 3
allele frequency: 2.626878217925817e-5
allele num: 114204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.1423C>T
  hgvsp: ENSP00000465372.1:p.Arg475Cys
  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.1423C>T
  hgvsp: ENSP00000372169.4:p.Arg475Cys
  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.1231C>T
  hgvsp: ENSP00000467697.1:p.Arg411Cys
  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.1616C>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.1423C>T
  hgvsp: ENSP00000465060.1:p.Arg475Cys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1423C>T
  hgvsp: ENSP00000403371.2:p.Arg475Cys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1078C>T
  hgvsp: ENSP00000468080.1:p.Arg360Cys
  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.1231C>T
  hgvsp: ENSP00000468530.1:p.Arg411Cys
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg475Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-1992099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992099
    reference: chr 12
allele count: 1
allele frequency: 8.786728525235485e-6
allele num: 113808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1419C>T
  hgvsp: ENST00000382722.5:c.1419C>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.1227C>T
  hgvsp: ENST00000585708.1:c.1227C>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.1419C>T
  hgvsp: ENST00000587995.1:c.1419C>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.1227C>T
  hgvsp: ENST00000588077.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1074C>T
  hgvsp: ENST00000585732.1:c.1074C>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.1419C>T
  hgvsp: ENST00000586184.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1419C>T
  hgvsp: ENST00000444595.2:c.1419C>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.1612C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu473Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-1992100-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992100
    reference: chr 12
allele count: 1
allele frequency: 8.795848359574281e-6
allele num: 113690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1226T>A
  hgvsp: ENSP00000467697.1:p.Leu409His
  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.1611T>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.1418T>A
  hgvsp: ENSP00000465372.1:p.Leu473His
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1418T>A
  hgvsp: ENSP00000403371.2:p.Leu473His
  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.1418T>A
  hgvsp: ENSP00000465060.1:p.Leu473His
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1073T>A
  hgvsp: ENSP00000468080.1:p.Leu358His
  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.1226T>A
  hgvsp: ENSP00000468530.1:p.Leu409His
  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.1418T>A
  hgvsp: ENSP00000372169.4:p.Leu473His
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu473His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-1992104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992104
    reference: chr 12
allele count: 4
allele frequency: 3.529640153186382e-5
allele num: 113326
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.1607G>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.1414G>A
  hgvsp: ENSP00000372169.4:p.Val472Met
  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.1222G>A
  hgvsp: ENSP00000468530.1:p.Val408Met
  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.1414G>A
  hgvsp: ENSP00000465060.1:p.Val472Met
  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.1222G>A
  hgvsp: ENSP00000467697.1:p.Val408Met
  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.1414G>A
  hgvsp: ENSP00000465372.1:p.Val472Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1069G>A
  hgvsp: ENSP00000468080.1:p.Val357Met
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1414G>A
  hgvsp: ENSP00000403371.2:p.Val472Met
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val472Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-1992104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992104
    reference: chr 12
allele count: 1
allele frequency: 8.824100382965956e-6
allele num: 113326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465372
  ensembl transcript: ENST00000587995
  gene symbol: CACNA2D4
  hgvsc: ENST00000587995.1:c.1414G>T
  hgvsp: ENSP00000465372.1:p.Val472Leu
  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.1222G>T
  hgvsp: ENSP00000467697.1:p.Val408Leu
  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.1414G>T
  hgvsp: ENSP00000465060.1:p.Val472Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1414G>T
  hgvsp: ENSP00000403371.2:p.Val472Leu
  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.1414G>T
  hgvsp: ENSP00000372169.4:p.Val472Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1069G>T
  hgvsp: ENSP00000468080.1:p.Val357Leu
  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.1607G>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.1222G>T
  hgvsp: ENSP00000468530.1:p.Val408Leu
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val472Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

12-1992105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992105
    reference: chr 12
allele count: 1
allele frequency: 8.832517797523362e-6
allele num: 113218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000467697
  ensembl transcript: ENST00000585708
  gene symbol: CACNA2D4
  hgvsc: ENST00000585708.1:c.1221C>T
  hgvsp: ENST00000585708.1:c.1221C>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.1413C>T
  hgvsp: ENST00000587995.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1413C>T
  hgvsp: ENST00000444595.2:c.1413C>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.1413C>T
  hgvsp: ENST00000382722.5:c.1413C>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.1606C>T
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1068C>T
  hgvsp: ENST00000585732.1:c.1068C>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.1413C>T
  hgvsp: ENST00000586184.1:c.1413C>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.1221C>T
  hgvsp: ENST00000588077.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His471His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-1992111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992111
    reference: chr 12
allele count: 1
allele frequency: 8.881625692766804e-6
allele num: 112592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1062C>T
  hgvsp: ENST00000585732.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1407C>T
  hgvsp: ENST00000444595.2:c.1407C>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.1407C>T
  hgvsp: ENST00000587995.1:c.1407C>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.1407C>T
  hgvsp: ENST00000586184.1:c.1407C>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.1215C>T
  hgvsp: ENST00000585708.1:c.1215C>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.1407C>T
  hgvsp: ENST00000382722.5:c.1407C>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.1215C>T
  hgvsp: ENST00000588077.1:c.1215C>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.1600C>T
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr469Tyr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-1992121-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992121
    reference: chr 12
allele count: 1
allele frequency: 9.014368904033029e-6
allele num: 110934
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.1397T>A
  hgvsp: ENSP00000465372.1:p.Val466Glu
  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.1205T>A
  hgvsp: ENSP00000468530.1:p.Val402Glu
  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.1205T>A
  hgvsp: ENSP00000467697.1:p.Val402Glu
  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.1590T>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.1397T>A
  hgvsp: ENSP00000372169.4:p.Val466Glu
  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.1397T>A
  hgvsp: ENSP00000465060.1:p.Val466Glu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1397T>A
  hgvsp: ENSP00000403371.2:p.Val466Glu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1052T>A
  hgvsp: ENSP00000468080.1:p.Val351Glu
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val466Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-1992123-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992123
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992123
    reference: chr 12
allele count: 1
allele frequency: 9.057806923787613e-6
allele num: 110402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1395C>A
  hgvsp: ENSP00000465060.1:p.Asn465Lys
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1050C>A
  hgvsp: ENSP00000468080.1:p.Asn350Lys
  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.1203C>A
  hgvsp: ENSP00000467697.1:p.Asn401Lys
  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.1588C>A
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1395C>A
  hgvsp: ENSP00000403371.2:p.Asn465Lys
  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.1203C>A
  hgvsp: ENSP00000468530.1:p.Asn401Lys
  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.1395C>A
  hgvsp: ENSP00000372169.4:p.Asn465Lys
  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.1395C>A
  hgvsp: ENSP00000465372.1:p.Asn465Lys
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25256
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn465Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-1992126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992126
    reference: chr 12
allele count: 1
allele frequency: 9.067662900564009e-6
allele num: 110282
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.1200G>A
  hgvsp: ENST00000588077.1:c.1200G>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.1392G>A
  hgvsp: ENST00000586184.1:c.1392G>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.1392G>A
  hgvsp: ENST00000587995.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1047G>A
  hgvsp: ENST00000585732.1:c.1047G>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.1200G>A
  hgvsp: ENST00000585708.1:c.1200G>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.1585G>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.1392G>A
  hgvsp: ENST00000382722.5:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1392G>A
  hgvsp: ENST00000444595.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu464Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-1992129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992129
    reference: chr 12
allele count: 1
allele frequency: 9.109127345600291e-6
allele num: 109780
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.1197G>A
  hgvsp: ENST00000588077.1:c.1197G>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.1582G>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.1389G>A
  hgvsp: ENST00000382722.5:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1044G>A
  hgvsp: ENST00000585732.1:c.1044G>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.1197G>A
  hgvsp: ENST00000585708.1:c.1197G>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.1389G>A
  hgvsp: ENST00000587995.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1389G>A
  hgvsp: ENST00000444595.2:c.1389G>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.1389G>A
  hgvsp: ENST00000586184.1:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln463Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-1992130-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992130
    reference: chr 12
allele count: 4
allele frequency: 3.643717320410282e-5
allele num: 109778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000465060
  ensembl transcript: ENST00000586184
  gene symbol: CACNA2D4
  hgvsc: ENST00000586184.1:c.1388A>T
  hgvsp: ENSP00000465060.1:p.Gln463Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1043A>T
  hgvsp: ENSP00000468080.1:p.Gln348Leu
  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.1388A>T
  hgvsp: ENSP00000372169.4:p.Gln463Leu
  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.1196A>T
  hgvsp: ENSP00000467697.1:p.Gln399Leu
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1388A>T
  hgvsp: ENSP00000403371.2:p.Gln463Leu
  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.1388A>T
  hgvsp: ENSP00000465372.1:p.Gln463Leu
  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.1581A>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.1196A>T
  hgvsp: ENSP00000468530.1:p.Gln399Leu
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Gln463Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-1992136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992136
    reference: chr 12
allele count: 1
allele frequency: 9.212514279397133e-6
allele num: 108548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468530
  ensembl transcript: ENST00000588077
  gene symbol: CACNA2D4
  hgvsc: ENST00000588077.1:c.1190A>G
  hgvsp: ENSP00000468530.1:p.Asp397Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1037A>G
  hgvsp: ENSP00000468080.1:p.Asp346Gly
  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.1382A>G
  hgvsp: ENSP00000465060.1:p.Asp461Gly
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1382A>G
  hgvsp: ENSP00000403371.2:p.Asp461Gly
  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.1190A>G
  hgvsp: ENSP00000467697.1:p.Asp397Gly
  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.1382A>G
  hgvsp: ENSP00000465372.1:p.Asp461Gly
  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.1382A>G
  hgvsp: ENSP00000372169.4:p.Asp461Gly
  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.1575A>G
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30323
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp461Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-1992136-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1992136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1992136
    reference: chr 12
allele count: 1
allele frequency: 9.212514279397133e-6
allele num: 108548
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000372169
  ensembl transcript: ENST00000382722
  gene symbol: CACNA2D4
  hgvsc: ENST00000382722.5:c.1382A>C
  hgvsp: ENSP00000372169.4:p.Asp461Ala
  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.1575A>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.1382A>C
  hgvsp: ENSP00000465060.1:p.Asp461Ala
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000468080
  ensembl transcript: ENST00000585732
  gene symbol: CACNA2D4
  hgvsc: ENST00000585732.1:c.1037A>C
  hgvsp: ENSP00000468080.1:p.Asp346Ala
  variant of: http://identifiers.org/hgnc/20202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151062
  ensembl protein: ENSP00000403371
  ensembl transcript: ENST00000444595
  gene symbol: CACNA2D4
  hgvsc: ENST00000444595.2:c.1382A>C
  hgvsp: ENSP00000403371.2:p.Asp461Ala
  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.1190A>C
  hgvsp: ENSP00000467697.1:p.Asp397Ala
  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.1382A>C
  hgvsp: ENSP00000465372.1:p.Asp461Ala
  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.1190A>C
  hgvsp: ENSP00000468530.1:p.Asp397Ala
  variant of: http://identifiers.org/hgnc/20202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp461Ala
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 214
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.173440556400782e-4
allele num: 9202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390439e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

GenotypeQuality
all individuals: 1193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

FS
type: SiteQuality
SIO_000300: 1.627e0

DP
type: SiteQuality
SIO_000300: 1.361607e6

VQSLOD
type: SiteQuality
SIO_000300: -5.597e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

GenotypeQuality
all individuals: 2540
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4465
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 7.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.299e0

DP
type: SiteQuality
SIO_000300: 1.308924e6

GenotypeQuality
all individuals: 3349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5322
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564700359881083e-5
allele num: 63910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 1.280084e6

VQSLOD
type: SiteQuality
SIO_000300: -3.183e0

FS
type: SiteQuality
SIO_000300: 3.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.416e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3612
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.13616e5

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17044
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.44857e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
all individuals: 4277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.759705103098721e-5
allele num: 17362
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.53824e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

GenotypeQuality
all individuals: 2111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10511
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.622399640166423e-5
allele num: 17786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 1.917e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 9.49e0

DP
type: SiteQuality
SIO_000300: 7.68442e5

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.124087591240876e-4
allele num: 3288
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 7.83472e5

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 1708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 1.322362621216574e-3
allele num: 20418
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

DP
type: SiteQuality
SIO_000300: 8.30614e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6061
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6332
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.897639337839162e-5
allele num: 20418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 8.30614e5

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 33461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 736
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8595
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 24
allele frequency: 8.784773060029283e-3
allele num: 2732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.379420144126027e-5
allele num: 23868
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 9.982253771073646e-4
allele num: 9016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.008e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 8.79212e5

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.280821917808219e-4
allele num: 2336
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.99501246882793e-3
allele num: 4010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.121332014507089e-5
allele num: 24264
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

FS
type: SiteQuality
SIO_000300: 1.743e0

QD
type: SiteQuality
SIO_000300: 1.227e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 8.84361e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.75e1
variant carriers: 8

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.319148936170213e-4
allele num: 1880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.095050372317127e-4
allele num: 9132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.978004588970646e-4
allele num: 25278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 8.96973e5

GenotypeQuality
all individuals: 734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 626
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.889537145079735e-5
allele num: 25710
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.176278563656148e-4
allele num: 9190
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.387774594078319e-4
allele num: 4188
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 9.960159362549801e-4
allele num: 3012
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.747252747252747e-3
allele num: 364
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

FS
type: SiteQuality
SIO_000300: 1.1514e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.897e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 9.02304e5

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.444712366517396e-5
allele num: 29030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

DP
type: SiteQuality
SIO_000300: 9.40681e5

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 1837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.290556103981573e-5
allele num: 30390
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

DP
type: SiteQuality
SIO_000300: 9.51521e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 822
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1896
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9641
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.939447383891828e-4
allele num: 3402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 9.47186e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
all individuals: 409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31253
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.53057e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

QD
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeQuality
all individuals: 1420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.046663937781416e-4
allele num: 4886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

FS
type: SiteQuality
SIO_000300: 1.0363e1

VQSLOD
type: SiteQuality
SIO_000300: -9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 9.51577e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 1418
bin: 1.75e1
variant carriers: 219

GenotypeQuality
all individuals: 666
bin: 1.25e1
variant carriers: 106

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 162

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 238

GenotypeQuality
all individuals: 8348
bin: 6.25e1
variant carriers: 245

GenotypeQuality
all individuals: 25350
bin: 2.25e1
variant carriers: 244

GenotypeQuality
all individuals: 1379
bin: 2.5e0
variant carriers: 41

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 337

GenotypeQuality
all individuals: 1444
bin: 6.75e1
variant carriers: 207

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 260

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 220

GenotypeQuality
all individuals: 10719
bin: 9.75e1
variant carriers: 9894

GenotypeQuality
all individuals: 2723
bin: 7.5e0
variant carriers: 86

GenotypeQuality
all individuals: 676
bin: 5.75e1
variant carriers: 241

European (Finnish)
type: Population
allele count: 426
allele frequency: 1.595505617977528e-1
allele num: 2670
num of homozygotes: 17

European (Non-Finnish)
type: Population
allele count: 5904
allele frequency: 1.719678434113946e-1
allele num: 34332
num of homozygotes: 283

South Asian
type: Population
allele count: 2267
allele frequency: 2.117504203250514e-1
allele num: 10706
num of homozygotes: 200

East Asian
type: Population
allele count: 265
allele frequency: 6.99947173798204e-2
allele num: 3786
num of homozygotes: 10

Latino
type: Population
allele count: 531
allele frequency: 1.38353309015112e-1
allele num: 3838
num of homozygotes: 18

African
type: Population
allele count: 3609
allele frequency: 5.528492647058824e-1
allele num: 6528
num of homozygotes: 870

Other
type: Population
allele count: 81
allele frequency: 1.816143497757848e-1
allele num: 446
num of homozygotes: 5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.810000000000001e-2

DP
type: SiteQuality
SIO_000300: 9.94225e5

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

QD
type: SiteQuality
SIO_000300: 1.477e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32975
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1396
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1241
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 9.98003992015968e-4
allele num: 5010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 4.588659455916093e-4
allele num: 30510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.482799525504152e-3
allele num: 3372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 1.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 8.30869e5

GenotypeQuality
all individuals: 4085
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1364
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 750
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1843
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 33105
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 2

African
type: Population
allele count: 155
allele frequency: 3.118712273641851e-2
allele num: 4970
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.317696666227434e-4
allele num: 30356
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 3.560830860534124e-3
allele num: 3370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2304
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.524861878453039e-4
allele num: 3620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.26715e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.676e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32858
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.114164904862579e-4
allele num: 4730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

DP
type: SiteQuality
SIO_000300: 8.04016e5

QD
type: SiteQuality
SIO_000300: 1.934e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1415
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.086375964948884e-4
allele num: 9586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.965e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

DP
type: SiteQuality
SIO_000300: 7.94608e5

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.975446428571428e-5
allele num: 28672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 2.33781414377557e-3
allele num: 3422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 7.88743e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 2.181e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

GenotypeQuality
all individuals: 957
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.487723214285714e-5
allele num: 28672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.181e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

QD
type: SiteQuality
SIO_000300: 1.056e1

DP
type: SiteQuality
SIO_000300: 7.88743e5

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
all individuals: 7563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27976
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.73551863493489e-4
allele num: 4454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.032140691328078e-4
allele num: 3298
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.69884e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
all individuals: 1462
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9826
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.877171215880893e-5
allele num: 25792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.16566e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 9.108000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 583
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12501
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.765060240963856e-4
allele num: 2656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 6.82335e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 1.13869278068777e-4
allele num: 8782
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 6.58659e5

QD
type: SiteQuality
SIO_000300: 1.709e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 6.072e1

GenotypeQuality
all individuals: 1535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16063
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1858
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.335357309668379e-4
allele num: 8564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.31799e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.060999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

QD
type: SiteQuality
SIO_000300: 1.679e1

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6000
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.211180124223603e-4
allele num: 1610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.857544517338332e-5
allele num: 17072
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.593e-1

DP
type: SiteQuality
SIO_000300: 5.66707e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18712
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.908070424199456e-5
allele num: 16926
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.162e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.635e1

DP
type: SiteQuality
SIO_000300: 5.62093e5

GenotypeQuality
all individuals: 1794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18779
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.003121623244087e-5
allele num: 16658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.747e0

DP
type: SiteQuality
SIO_000300: 5.56154e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.79e-2

GenotypeQuality
all individuals: 787
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18419
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.620564808110065e-4
allele num: 2762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.764e0

DP
type: SiteQuality
SIO_000300: 5.45079e5

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5724
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5757
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.109631602308034e-4
allele num: 9012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.548e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.564000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.280655e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 3122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607975558771507e-5
allele num: 62190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.28927e6

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

QD
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
all individuals: 3531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.6e-4
allele num: 6250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.29882e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.986e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.812917291184085e-5
allele num: 14678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.30462e6

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

GenotypeQuality
all individuals: 3744
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.742179072276159e-5
allele num: 14832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.377841e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.552e-1

FS
type: SiteQuality
SIO_000300: 6.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 7.41e0

GenotypeQuality
all individuals: 1158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.44822373393802e-5
allele num: 10584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.918448313863788e-4
allele num: 9074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 2.425e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.392364e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587351979427918e-5
allele num: 62998
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.1001100110011e-4
allele num: 9090
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.721333512568894e-5
allele num: 14878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.400817e6

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 2.116e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 9.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 3262
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547364837681428e-5
allele num: 64626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.731e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 7.76e0

DP
type: SiteQuality
SIO_000300: 1.500004e6

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

GenotypeQuality
all individuals: 652
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540974512281567e-5
allele num: 64894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.692e0

DP
type: SiteQuality
SIO_000300: 1.51472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 423
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535390756947643e-5
allele num: 65130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 1.525876e6

QD
type: SiteQuality
SIO_000300: 1.14e1

GenotypeQuality
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.162568558575214e-5
allele num: 64908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.521419e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 1109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.210616438356164e-4
allele num: 9344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080524921446614e-5
allele num: 64924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 5.186e0

DP
type: SiteQuality
SIO_000300: 1.522212e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42889
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.081664098613251e-5
allele num: 64900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.520538e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.085753078038695e-5
allele num: 64814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.51839e6

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.292991983449703e-4
allele num: 15468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543019380323417e-5
allele num: 64808
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.125e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 1.158e0

DP
type: SiteQuality
SIO_000300: 1.517654e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543495709081929e-5
allele num: 64788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.515767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 5.609e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.446e0

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.184865633794106e-5
allele num: 64674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 5.543e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.536e1

DP
type: SiteQuality
SIO_000300: 1.509913e6

FS
type: SiteQuality
SIO_000300: 2.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
all individuals: 925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.507281e6

QD
type: SiteQuality
SIO_000300: 2.473e1

VQSLOD
type: SiteQuality
SIO_000300: -3.031e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095783542814686e-5
allele num: 64604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.8e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 1.507013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 2.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 916
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194457716196847e-4
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.601e0

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.491272e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3259
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.116429818000499e-5
allele num: 64176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.115e0

QD
type: SiteQuality
SIO_000300: 5.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.486599e6

GenotypeQuality
all individuals: 1453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.205109664979513e-4
allele num: 8298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136664471001537e-5
allele num: 63762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 4.899e0

DP
type: SiteQuality
SIO_000300: 1.474145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.576e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeQuality
all individuals: 798
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.46638e6

GenotypeQuality
all individuals: 718
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1542
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20889748549323e-4
allele num: 8272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.461066e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.738887309259786e-5
allele num: 63306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.211827435773146e-4
allele num: 8252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 1.265e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.45581e6

GenotypeQuality
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63306
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.211827435773146e-4
allele num: 8252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

FS
type: SiteQuality
SIO_000300: 1.265e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

DP
type: SiteQuality
SIO_000300: 1.45581e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 35082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11681929863748e-4
allele num: 8954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 6.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.573e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.454431e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

GenotypeQuality
all individuals: 835
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588966218578193e-5
allele num: 62934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.081e0

VQSLOD
type: SiteQuality
SIO_000300: -1.238e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.44351e6

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611655492521919e-5
allele num: 62048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.415899e6

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 1530
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.764984440535787e-5
allele num: 14782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 8.93e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 4.264e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.407492e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 3255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620272853948605e-5
allele num: 61718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.112e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.563e1

DP
type: SiteQuality
SIO_000300: 1.406007e6

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627604166666667e-5
allele num: 61440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.946e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 1.528e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 1.401191e6

QD
type: SiteQuality
SIO_000300: 1.731e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.12e0

GenotypeQuality
all individuals: 810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.812917291184085e-5
allele num: 14678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.734129947722181e-4
allele num: 8034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.312e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.399263e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 1.1416e1

VQSLOD
type: SiteQuality
SIO_000300: -2.123e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.87757909215956e-5
allele num: 14540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.381409e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -7.957e-1

FS
type: SiteQuality
SIO_000300: 4.502e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.46e1