3-47043885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043885
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043885
    reference: chr 3
allele count: 4
allele frequency: 3.327399470943484e-5
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4624G>A
  hgvsp: ENSP00000292309.5:p.Glu1542Lys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.281G>A
  hgvsp: ENSP00000414560.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.13G>A
  hgvsp: ENSP00000373246.2:p.Glu5Lys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3039G>A
  hgvsp: ENSP00000410405.1:p.Glu1014Lys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5176G>A
  hgvsp: ENSP00000415034.2:p.Glu1726Lys
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1726Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-47043895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043895
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043895
    reference: chr 3
allele count: 19
allele frequency: 1.58056734048748e-4
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3049C>T
  hgvsp: ENSP00000410405.1:p.Thr1017Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4634C>T
  hgvsp: ENSP00000292309.5:p.Thr1545Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5186C>T
  hgvsp: ENSP00000415034.2:p.Thr1729Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.291C>T
  hgvsp: ENSP00000414560.1:p.Thr98Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.23C>T
  hgvsp: ENSP00000373246.2:p.Thr8Met
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr1729Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-47043896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043896
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043896
    reference: chr 3
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4635G>A
  hgvsp: ENST00000292309.5:c.4635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.24G>A
  hgvsp: ENST00000383740.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3050G>A
  hgvsp: ENST00000416683.1:c.3050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5187G>A
  hgvsp: ENST00000450053.3:c.5187G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.292G>A
  hgvsp: ENST00000443829.1:c.292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1729Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

3-47043901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043901
    reference: chr 3
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5192C>T
  hgvsp: ENSP00000415034.2:p.Ala1731Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.297C>T
  hgvsp: ENSP00000414560.1:p.Ala100Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4640C>T
  hgvsp: ENSP00000292309.5:p.Ala1547Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3055C>T
  hgvsp: ENSP00000410405.1:p.Ala1019Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.29C>T
  hgvsp: ENSP00000373246.2:p.Ala10Val
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51472
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1731Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-47043911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043911
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043911
    reference: chr 3
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5202C>T
  hgvsp: ENST00000450053.3:c.5202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3065C>T
  hgvsp: ENST00000416683.1:c.3065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4650C>T
  hgvsp: ENST00000292309.5:c.4650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.307C>T
  hgvsp: ENST00000443829.1:c.307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.39C>T
  hgvsp: ENST00000383740.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His1734His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

3-47043913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043913
    reference: chr 3
allele count: 2
allele frequency: 1.665722757104307e-5
allele num: 120068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.41A>G
  hgvsp: ENSP00000373246.2:p.Asp14Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5204A>G
  hgvsp: ENSP00000415034.2:p.Asp1735Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.309A>G
  hgvsp: ENSP00000414560.1:p.Asp104Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4652A>G
  hgvsp: ENSP00000292309.5:p.Asp1551Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3067A>G
  hgvsp: ENSP00000410405.1:p.Asp1023Gly
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51362
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1735Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-47043920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043920
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043920
    reference: chr 3
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3074G>A
  hgvsp: ENSP00000410405.1:p.Met1025Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4659G>A
  hgvsp: ENSP00000292309.5:p.Met1553Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5211G>A
  hgvsp: ENSP00000415034.2:p.Met1737Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.48G>A
  hgvsp: ENSP00000373246.2:p.Met16Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.316G>A
  hgvsp: ENSP00000414560.1:p.Met106Ile
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1737Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-47043923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043923
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043923
    reference: chr 3
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.51A>G
  hgvsp: ENST00000383740.2:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.319A>G
  hgvsp: ENST00000443829.1:c.319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5214A>G
  hgvsp: ENST00000450053.3:c.5214A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4662A>G
  hgvsp: ENST00000292309.5:c.4662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3077A>G
  hgvsp: ENST00000416683.1:c.3077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1738Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-47043938-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043938
    reference: chr 3
allele count: 2
allele frequency: 1.669058984544514e-5
allele num: 119828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.334C>G
  hgvsp: ENST00000443829.1:c.334C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4677C>G
  hgvsp: ENST00000292309.5:c.4677C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.66C>G
  hgvsp: ENST00000383740.2:c.66C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5229C>G
  hgvsp: ENST00000450053.3:c.5229C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3092C>G
  hgvsp: ENST00000416683.1:c.3092C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1743Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-47043938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043938
    reference: chr 3
allele count: 9
allele frequency: 7.510765430450313e-5
allele num: 119828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3092C>T
  hgvsp: ENST00000416683.1:c.3092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5229C>T
  hgvsp: ENST00000450053.3:c.5229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.66C>T
  hgvsp: ENST00000383740.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4677C>T
  hgvsp: ENST00000292309.5:c.4677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.334C>T
  hgvsp: ENST00000443829.1:c.334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1743Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

3-47043940-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043940
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043940
    reference: chr 3
allele count: 2
allele frequency: 1.670592559180741e-5
allele num: 119718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.68G>C
  hgvsp: ENSP00000373246.2:p.Cys23Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3094G>C
  hgvsp: ENSP00000410405.1:p.Cys1032Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.336G>C
  hgvsp: ENSP00000414560.1:p.Cys113Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5231G>C
  hgvsp: ENSP00000415034.2:p.Cys1744Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4679G>C
  hgvsp: ENSP00000292309.5:p.Cys1560Ser
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys1744Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-47043943-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043943
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043943
    reference: chr 3
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3097A>C
  hgvsp: ENSP00000410405.1:p.Tyr1033Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.339A>C
  hgvsp: ENSP00000414560.1:p.Tyr114Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4682A>C
  hgvsp: ENSP00000292309.5:p.Tyr1561Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5234A>C
  hgvsp: ENSP00000415034.2:p.Tyr1745Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.71A>C
  hgvsp: ENSP00000373246.2:p.Tyr24Ser
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr1745Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-47043951-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043951
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043951
    reference: chr 3
allele count: 2
allele frequency: 1.673052149035485e-5
allele num: 119542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4690C>G
  hgvsp: ENSP00000292309.5:p.Leu1564Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3105C>G
  hgvsp: ENSP00000410405.1:p.Leu1036Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5242C>G
  hgvsp: ENSP00000415034.2:p.Leu1748Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.347C>G
  hgvsp: ENSP00000414560.1:p.Leu117Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.79C>G
  hgvsp: ENSP00000373246.2:p.Leu27Val
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu1748Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-47043959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043959
    reference: chr 3
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4698C>T
  hgvsp: ENST00000292309.5:c.4698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.355C>T
  hgvsp: ENST00000443829.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5250C>T
  hgvsp: ENST00000450053.3:c.5250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.87C>T
  hgvsp: ENST00000383740.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3113C>T
  hgvsp: ENST00000416683.1:c.3113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1750Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

3-47043961-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043961
    reference: chr 3
allele count: 1
allele frequency: 8.400819920024195e-6
allele num: 119036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4700G>T
  hgvsp: ENSP00000292309.5:p.Ser1567Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5252G>T
  hgvsp: ENSP00000415034.2:p.Ser1751Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.357G>T
  hgvsp: ENSP00000414560.1:p.Ser120Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.89G>T
  hgvsp: ENSP00000373246.2:p.Ser30Ile
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3115G>T
  hgvsp: ENSP00000410405.1:p.Ser1039Ile
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1751Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

3-47043970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043970
    reference: chr 3
allele count: 2
allele frequency: 1.685431133283894e-5
allele num: 118664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5261G>A
  hgvsp: ENSP00000415034.2:p.Arg1754Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.98G>A
  hgvsp: ENSP00000373246.2:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.366G>A
  hgvsp: ENSP00000414560.1:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4709G>A
  hgvsp: ENSP00000292309.5:p.Arg1570Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3124G>A
  hgvsp: ENSP00000410405.1:p.Arg1042Gln
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1754Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-47043972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043972
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043972
    reference: chr 3
allele count: 1
allele frequency: 8.429144610404936e-6
allele num: 118636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.368C>T
  hgvsp: ENSP00000414560.1:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5263C>T
  hgvsp: ENSP00000415034.2:p.Arg1755Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.100C>T
  hgvsp: ENSP00000373246.2:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3126C>T
  hgvsp: ENSP00000410405.1:p.Arg1043Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4711C>T
  hgvsp: ENSP00000292309.5:p.Arg1571Cys
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1755Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-47043973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043973
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043973
    reference: chr 3
allele count: 3
allele frequency: 2.534982762117218e-5
allele num: 118344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.101G>A
  hgvsp: ENSP00000373246.2:p.Arg34His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3127G>A
  hgvsp: ENSP00000410405.1:p.Arg1043His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5264G>A
  hgvsp: ENSP00000415034.2:p.Arg1755His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4712G>A
  hgvsp: ENSP00000292309.5:p.Arg1571His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.369G>A
  hgvsp: ENSP00000414560.1:p.Arg124His
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1755His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-47043978-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043978
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043978
    reference: chr 3
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3132T>A
  hgvsp: ENSP00000410405.1:p.Trp1045Arg
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4717T>A
  hgvsp: ENSP00000292309.5:p.Trp1573Arg
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5269T>A
  hgvsp: ENSP00000415034.2:p.Trp1757Arg
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.374T>A
  hgvsp: ENSP00000414560.1:p.Trp126Arg
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.106T>A
  hgvsp: ENSP00000373246.2:p.Trp36Arg
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp1757Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47043982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043982
    reference: chr 3
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5273A>G
  hgvsp: ENSP00000415034.2:p.Glu1758Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4721A>G
  hgvsp: ENSP00000292309.5:p.Glu1574Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.378A>G
  hgvsp: ENSP00000414560.1:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.110A>G
  hgvsp: ENSP00000373246.2:p.Glu37Gly
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3136A>G
  hgvsp: ENSP00000410405.1:p.Glu1046Gly
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1758Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-47043985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043985
    reference: chr 3
allele count: 2
allele frequency: 1.698686915014694e-5
allele num: 117738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4724G>A
  hgvsp: ENSP00000292309.5:p.Arg1575His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5276G>A
  hgvsp: ENSP00000415034.2:p.Arg1759His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3139G>A
  hgvsp: ENSP00000410405.1:p.Arg1047His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.381G>A
  hgvsp: ENSP00000414560.1:p.Arg128His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.113G>A
  hgvsp: ENSP00000373246.2:p.Arg38His
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1759His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-47043986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043986
    reference: chr 3
allele count: 24
allele frequency: 2.043701142769556e-4
allele num: 117434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.382C>T
  hgvsp: ENST00000443829.1:c.382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.114C>T
  hgvsp: ENST00000383740.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4725C>T
  hgvsp: ENST00000292309.5:c.4725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5277C>T
  hgvsp: ENST00000450053.3:c.5277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3140C>T
  hgvsp: ENST00000416683.1:c.3140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1759Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-47043987-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043987
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043987
    reference: chr 3
allele count: 1
allele frequency: 8.518322912584971e-6
allele num: 117394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.383G>T
  hgvsp: ENSP00000414560.1:p.Ala129Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.115G>T
  hgvsp: ENSP00000373246.2:p.Ala39Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3141G>T
  hgvsp: ENSP00000410405.1:p.Ala1048Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5278G>T
  hgvsp: ENSP00000415034.2:p.Ala1760Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4726G>T
  hgvsp: ENSP00000292309.5:p.Ala1576Ser
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1760Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-47043987-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043987
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043986
    reference: chr 3
allele count: 2
allele frequency: 1.703664582516994e-5
allele num: 117394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.118delC
  hgvsp: ENSP00000373246.2:p.Gln40ArgfsTer29
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.386delC
  hgvsp: ENSP00000414560.1:p.Gln130ArgfsTer29
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5281delC
  hgvsp: ENSP00000415034.2:p.Gln1761ArgfsTer29
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4729delC
  hgvsp: ENSP00000292309.5:p.Gln1577ArgfsTer29
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3144delC
  hgvsp: ENSP00000410405.1:p.Gln1049ArgfsTer29
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1761ArgfsTer29
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: GC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-47043994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043994
    reference: chr 3
allele count: 1
allele frequency: 8.568392912225382e-6
allele num: 116708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3148G>A
  hgvsp: ENSP00000410405.1:p.Ser1050Asn
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5285G>A
  hgvsp: ENSP00000415034.2:p.Ser1762Asn
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4733G>A
  hgvsp: ENSP00000292309.5:p.Ser1578Asn
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.122G>A
  hgvsp: ENSP00000373246.2:p.Ser41Asn
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.390G>A
  hgvsp: ENSP00000414560.1:p.Ser131Asn
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1762Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-47043997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47043997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47043997
    reference: chr 3
allele count: 4
allele frequency: 3.435599683924829e-5
allele num: 116428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.393G>A
  hgvsp: ENSP00000414560.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3151G>A
  hgvsp: ENSP00000410405.1:p.Arg1051His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.125G>A
  hgvsp: ENSP00000373246.2:p.Arg42His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5288G>A
  hgvsp: ENSP00000415034.2:p.Arg1763His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4736G>A
  hgvsp: ENSP00000292309.5:p.Arg1579His
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1763His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

3-47044000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044000
    reference: chr 3
allele count: 5
allele frequency: 4.310344827586207e-5
allele num: 116000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4739G>A
  hgvsp: ENSP00000292309.5:p.Arg1580Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3154G>A
  hgvsp: ENSP00000410405.1:p.Arg1052Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.396G>A
  hgvsp: ENSP00000414560.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5291G>A
  hgvsp: ENSP00000415034.2:p.Arg1764Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.128G>A
  hgvsp: ENSP00000373246.2:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36737
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1764Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-47044003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044003
    reference: chr 3
allele count: 1
allele frequency: 8.627234453723514e-6
allele num: 115912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4742C>T
  hgvsp: ENSP00000292309.5:p.Ala1581Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5294C>T
  hgvsp: ENSP00000415034.2:p.Ala1765Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.399C>T
  hgvsp: ENSP00000414560.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3157C>T
  hgvsp: ENSP00000410405.1:p.Ala1053Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.131C>T
  hgvsp: ENSP00000373246.2:p.Ala44Val
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41313
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1765Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-47044008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044008
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044008
    reference: chr 3
allele count: 1
allele frequency: 8.664610265830243e-6
allele num: 115412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5299C>T
  hgvsp: ENSP00000415034.2:p.Gln1767Ter
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4747C>T
  hgvsp: ENSP00000292309.5:p.Gln1583Ter
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.404C>T
  hgvsp: ENSP00000414560.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.136C>T
  hgvsp: ENSP00000373246.2:p.Gln46Ter
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3162C>T
  hgvsp: ENSP00000410405.1:p.Gln1055Ter
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln1767Ter
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

3-47044011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044011
    reference: chr 3
allele count: 1
allele frequency: 8.674682072902028e-6
allele num: 115278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+1G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+1G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+1G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+1G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+1G>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
hgvs: c.5301+1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/3-47044016-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044014
    reference: chr 3
allele count: 2
allele frequency: 1.748037827538588e-5
allele num: 114414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+8_4749+9delAC
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+8_5301+9delAC
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+8_406+9delAC
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+8_138+9delAC
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+8_3164+9delAC
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
hgvs: c.5301+8_5301+9delAC
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CCA
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-47044021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044021
    reference: chr 3
allele count: 395
allele frequency: 3.462603878116343e-3
allele num: 114076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+11C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+11C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+11C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+11C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+11C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 30266
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 33836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

3-47044022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044022
    reference: chr 3
allele count: 4
allele frequency: 3.509018176714155e-5
allele num: 113992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+12G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+12G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+12G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+12G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+12G>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

3-47044022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044022
    reference: chr 3
allele count: 1
allele frequency: 8.772545441785388e-6
allele num: 113992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+12G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+12G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+12G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+12G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+12G>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-47044026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044026
    reference: chr 3
allele count: 3
allele frequency: 2.635138696133373e-5
allele num: 113846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+16T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+16T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+16T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+16T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+16T>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-47044031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044031
    reference: chr 3
allele count: 1
allele frequency: 8.80312687066446e-6
allele num: 113596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+21G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+21G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+21G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+21G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+21G>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

3-47044033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044033
    reference: chr 3
allele count: 2
allele frequency: 1.76186616864583e-5
allele num: 113516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+23T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+23T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+23T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+23T>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+23T>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-47044053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044053
    reference: chr 3
allele count: 1
allele frequency: 8.99733678831066e-6
allele num: 111144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+43G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+43G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+43G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+43G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+43G>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-47044054-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044054
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044054
    reference: chr 3
allele count: 1
allele frequency: 8.996527340446587e-6
allele num: 111154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5301+44C>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3164+44C>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4749+44C>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.138+44C>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.406+44C>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14092
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

3-47044085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044085
    reference: chr 3
allele count: 2
allele frequency: 2.023349452683973e-5
allele num: 98846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-50C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-50C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-50C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-50C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-50C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

3-47044086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044086
    reference: chr 3
allele count: 1
allele frequency: 1.017977482338091e-5
allele num: 98234
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-49G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-49G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-49G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-49G>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-49G>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 431
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genotype quality: GenotypeQuality
  all individuals: 6241
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
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genotype quality: GenotypeQuality
  all individuals: 1756
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-47044103-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044103
    reference: chr 3
allele count: 1
allele frequency: 1.026483268322726e-5
allele num: 97420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-32G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-32G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-32G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-32G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-32G>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16535
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-47044104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044104
    reference: chr 3
allele count: 1
allele frequency: 1.027432446316655e-5
allele num: 97330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-31C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-31C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-31C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-31C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-31C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-47044106-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044106
    reference: chr 3
allele count: 4
allele frequency: 4.102984921530413e-5
allele num: 97490
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-29A>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-29A>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-29A>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-29A>C
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-29A>C
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-47044107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044107
    reference: chr 3
allele count: 1
allele frequency: 1.02781260920509e-5
allele num: 97294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-28G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-28G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-28G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-28G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-28G>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-47044108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044108
    reference: chr 3
allele count: 2
allele frequency: 2.052503027441965e-5
allele num: 97442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-27G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-27G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-27G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-27G>A
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-27G>A
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-47044108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044108
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 97442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-27G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-27G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-27G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-27G>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-27G>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10322
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-47044119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044119
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044119
    reference: chr 3
allele count: 4
allele frequency: 4.073983541106494e-5
allele num: 98184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-16A>G
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-16A>G
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-16A>G
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-16A>G
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-16A>G
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-47044122-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044122
    reference: chr 3
allele count: 105169
allele frequency: 9.873540125427166e-1
allele num: 106516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-13A>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-13A>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-13A>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-13A>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-13A>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 7.5e0
  variant carriers: 5410
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 1.25e1
  variant carriers: 10984
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 10557
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 4940
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 3231
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 950
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 1.75e1
  variant carriers: 13554
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 1450
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.75e1
  variant carriers: 6529
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 2716
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 2892
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.25e1
  variant carriers: 1501
genotype quality: GenotypeQuality
  all individuals: 10918
  bin: 9.75e1
  variant carriers: 10918
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 5.75e1
  variant carriers: 2660
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 453
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 2.75e1
  variant carriers: 1507
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.25e1
  variant carriers: 2444
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 4.75e1
  variant carriers: 5281
genotype quality: GenotypeQuality
  all individuals: 548
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  variant carriers: 543
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 2254
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 3625
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 5.25e1
  variant carriers: 5343
num of homozygotes: 52006
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-47044123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044123
    reference: chr 3
allele count: 2
allele frequency: 2.188183807439825e-5
allele num: 91400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-12C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-12C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-12C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-12C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-12C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 608
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genotype quality: GenotypeQuality
  all individuals: 401
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
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genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

3-47044129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044129
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044129
    reference: chr 3
allele count: 1
allele frequency: 1.103606586324107e-5
allele num: 90612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-6C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-6C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-6C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-6C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-6C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10358
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 6.75e1
  variant carriers: 0
hgvs: c.5302-6C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

3-47044130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044130
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044130
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 90360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.139-5C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3165-5C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5302-5C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.407-5C>T
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4750-5C>T
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
hgvs: c.5302-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS

3-47044137-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044137
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044137
    reference: chr 3
allele count: 1
allele frequency: 1.11731843575419e-5
allele num: 89500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.141G>C
  hgvsp: ENSP00000373246.2:p.Glu47Asp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.409G>C
  hgvsp: ENSP00000414560.1:p.Glu137Asp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3167G>C
  hgvsp: ENSP00000410405.1:p.Glu1056Asp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4752G>C
  hgvsp: ENSP00000292309.5:p.Glu1584Asp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5304G>C
  hgvsp: ENSP00000415034.2:p.Glu1768Asp
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1768Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47044154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044154
    reference: chr 3
allele count: 2
allele frequency: 2.367760572050954e-5
allele num: 84468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.426C>T
  hgvsp: ENSP00000414560.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4769C>T
  hgvsp: ENSP00000292309.5:p.Ala1590Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.158C>T
  hgvsp: ENSP00000373246.2:p.Ala53Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3184C>T
  hgvsp: ENSP00000410405.1:p.Ala1062Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5321C>T
  hgvsp: ENSP00000415034.2:p.Ala1774Val
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1774Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

3-47044156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044156
    reference: chr 3
allele count: 1
allele frequency: 1.235818977236214e-5
allele num: 80918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.160C>G
  hgvsp: ENSP00000373246.2:p.Gln54Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4771C>G
  hgvsp: ENSP00000292309.5:p.Gln1591Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.428C>G
  hgvsp: ENSP00000414560.1:p.Gln144Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5323C>G
  hgvsp: ENSP00000415034.2:p.Gln1775Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3186C>G
  hgvsp: ENSP00000410405.1:p.Gln1063Glu
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln1775Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

3-47044162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044162
    reference: chr 3
allele count: 2
allele frequency: 2.53852207244942e-5
allele num: 78786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.166C>T
  hgvsp: ENSP00000373246.2:p.Arg56Trp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.434C>T
  hgvsp: ENSP00000414560.1:p.Arg146Trp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5329C>T
  hgvsp: ENSP00000415034.2:p.Arg1777Trp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4777C>T
  hgvsp: ENSP00000292309.5:p.Arg1593Trp
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3192C>T
  hgvsp: ENSP00000410405.1:p.Arg1065Trp
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22935
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1777Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-47044163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044163
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044163
    reference: chr 3
allele count: 3
allele frequency: 3.863092018851889e-5
allele num: 77658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.167G>A
  hgvsp: ENSP00000373246.2:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3193G>A
  hgvsp: ENSP00000410405.1:p.Arg1065Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.435G>A
  hgvsp: ENSP00000414560.1:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4778G>A
  hgvsp: ENSP00000292309.5:p.Arg1593Gln
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5330G>A
  hgvsp: ENSP00000415034.2:p.Arg1777Gln
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1777Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

3-47044166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044166
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044166
    reference: chr 3
allele count: 4
allele frequency: 5.213764337851929e-5
allele num: 76720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.170C>T
  hgvsp: ENSP00000373246.2:p.Ala57Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3196C>T
  hgvsp: ENSP00000410405.1:p.Ala1066Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.438C>T
  hgvsp: ENSP00000414560.1:p.Ala147Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5333C>T
  hgvsp: ENSP00000415034.2:p.Ala1778Val
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4781C>T
  hgvsp: ENSP00000292309.5:p.Ala1594Val
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1778Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-47044167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044167
    reference: chr 3
allele count: 5
allele frequency: 6.560990972076423e-5
allele num: 76208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4782G>A
  hgvsp: ENST00000292309.5:c.4782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3197G>A
  hgvsp: ENST00000416683.1:c.3197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5334G>A
  hgvsp: ENST00000450053.3:c.5334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.171G>A
  hgvsp: ENST00000383740.2:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.439G>A
  hgvsp: ENST00000443829.1:c.439G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1778Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

3-47044168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044168
    reference: chr 3
allele count: 38
allele frequency: 4.99408595084768e-4
allele num: 76090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.172C>T
  hgvsp: ENSP00000373246.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5335C>T
  hgvsp: ENSP00000415034.2:p.Arg1779Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4783C>T
  hgvsp: ENSP00000292309.5:p.Arg1595Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3198C>T
  hgvsp: ENSP00000410405.1:p.Arg1067Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.440C>T
  hgvsp: ENSP00000414560.1:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17676
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24471
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1779Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-47044171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044171
    reference: chr 3
allele count: 1
allele frequency: 1.355527842541886e-5
allele num: 73772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.443C>T
  hgvsp: ENST00000443829.1:c.443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4786C>T
  hgvsp: ENST00000292309.5:c.4786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3201C>T
  hgvsp: ENST00000416683.1:c.3201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5338C>T
  hgvsp: ENST00000450053.3:c.5338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.175C>T
  hgvsp: ENST00000383740.2:c.175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14129
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1780Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-47044176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044176
    reference: chr 3
allele count: 3
allele frequency: 4.17095347996552e-5
allele num: 71926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.448G>A
  hgvsp: ENST00000443829.1:c.448G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3206G>A
  hgvsp: ENST00000416683.1:c.3206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5343G>A
  hgvsp: ENST00000450053.3:c.5343G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4791G>A
  hgvsp: ENST00000292309.5:c.4791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.180G>A
  hgvsp: ENST00000383740.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1781Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-47044178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044178
    reference: chr 3
allele count: 1
allele frequency: 1.402642578618117e-5
allele num: 71294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.450G>A
  hgvsp: ENSP00000414560.1:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4793G>A
  hgvsp: ENSP00000292309.5:p.Gly1598Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3208G>A
  hgvsp: ENSP00000410405.1:p.Gly1070Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.182G>A
  hgvsp: ENSP00000373246.2:p.Gly61Glu
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5345G>A
  hgvsp: ENSP00000415034.2:p.Gly1782Glu
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Gly1782Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47044183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044183
    reference: chr 3
allele count: 1
allele frequency: 1.45964092833163e-5
allele num: 68510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4798C>T
  hgvsp: ENSP00000292309.5:p.Arg1600Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.187C>T
  hgvsp: ENSP00000373246.2:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3213C>T
  hgvsp: ENSP00000410405.1:p.Arg1072Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5350C>T
  hgvsp: ENSP00000415034.2:p.Arg1784Cys
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.455C>T
  hgvsp: ENSP00000414560.1:p.Arg153Cys
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1784Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-47044184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044184
    reference: chr 3
allele count: 1
allele frequency: 1.461432788706047e-5
allele num: 68426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.188G>A
  hgvsp: ENSP00000373246.2:p.Arg63His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.456G>A
  hgvsp: ENSP00000414560.1:p.Arg153His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5351G>A
  hgvsp: ENSP00000415034.2:p.Arg1784His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4799G>A
  hgvsp: ENSP00000292309.5:p.Arg1600His
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3214G>A
  hgvsp: ENSP00000410405.1:p.Arg1072His
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1784His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-47044189-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044189
    reference: chr 3
allele count: 31
allele frequency: 4.606651410229738e-4
allele num: 67294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5356A>T
  hgvsp: ENSP00000415034.2:p.Thr1786Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3219A>T
  hgvsp: ENSP00000410405.1:p.Thr1074Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4804A>T
  hgvsp: ENSP00000292309.5:p.Thr1602Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.193A>T
  hgvsp: ENSP00000373246.2:p.Thr65Ser
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.461A>T
  hgvsp: ENSP00000414560.1:p.Thr155Ser
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1786Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-47044190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044190
    reference: chr 3
allele count: 5
allele frequency: 7.50030001200048e-5
allele num: 66664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3220C>T
  hgvsp: ENSP00000410405.1:p.Thr1074Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5357C>T
  hgvsp: ENSP00000415034.2:p.Thr1786Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.194C>T
  hgvsp: ENSP00000373246.2:p.Thr65Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4805C>T
  hgvsp: ENSP00000292309.5:p.Thr1602Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.462C>T
  hgvsp: ENSP00000414560.1:p.Thr155Met
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1786Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47044191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044191
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044191
    reference: chr 3
allele count: 6
allele frequency: 9.068649678062936e-5
allele num: 66162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.195G>A
  hgvsp: ENST00000383740.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5358G>A
  hgvsp: ENST00000450053.3:c.5358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4806G>A
  hgvsp: ENST00000292309.5:c.4806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.463G>A
  hgvsp: ENST00000443829.1:c.463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3221G>A
  hgvsp: ENST00000416683.1:c.3221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1786Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-47044214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044214
    reference: chr 3
allele count: 11
allele frequency: 2.037640782454061e-4
allele num: 53984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.218C>T
  hgvsp: ENSP00000373246.2:p.Thr73Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4829C>T
  hgvsp: ENSP00000292309.5:p.Thr1610Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5381C>T
  hgvsp: ENSP00000415034.2:p.Thr1794Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.486C>T
  hgvsp: ENSP00000414560.1:p.Thr163Met
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3244C>T
  hgvsp: ENSP00000410405.1:p.Thr1082Met
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 30024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1794Met
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-47044215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044215
    reference: chr 3
allele count: 28
allele frequency: 5.215901046905852e-4
allele num: 53682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4830G>A
  hgvsp: ENST00000292309.5:c.4830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3245G>A
  hgvsp: ENST00000416683.1:c.3245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5382G>A
  hgvsp: ENST00000450053.3:c.5382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.487G>A
  hgvsp: ENST00000443829.1:c.487G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.219G>A
  hgvsp: ENST00000383740.2:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15646
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24160
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6995
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Thr1794Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-47044219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044219
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044219
    reference: chr 3
allele count: 1
allele frequency: 1.94325689856199e-5
allele num: 51460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3249C>T
  hgvsp: ENSP00000410405.1:p.His1084Tyr
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4834C>T
  hgvsp: ENSP00000292309.5:p.His1612Tyr
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.223C>T
  hgvsp: ENSP00000373246.2:p.His75Tyr
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5386C>T
  hgvsp: ENSP00000415034.2:p.His1796Tyr
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.491C>T
  hgvsp: ENSP00000414560.1:p.His165Tyr
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1796Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47044231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044231
    reference: chr 3
allele count: 1
allele frequency: 2.142520461070403e-5
allele num: 46674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3261C>T
  hgvsp: ENST00000416683.1:c.3261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5398C>T
  hgvsp: ENST00000450053.3:c.5398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.503C>T
  hgvsp: ENST00000443829.1:c.503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.235C>T
  hgvsp: ENST00000383740.2:c.235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4846C>T
  hgvsp: ENST00000292309.5:c.4846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1800Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-47044233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044233
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044233
    reference: chr 3
allele count: 1
allele frequency: 2.182262569832402e-5
allele num: 45824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5400G>C
  hgvsp: ENST00000450053.3:c.5400G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.237G>C
  hgvsp: ENST00000383740.2:c.237G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3263G>C
  hgvsp: ENST00000416683.1:c.3263G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4848G>C
  hgvsp: ENST00000292309.5:c.4848G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.505G>C
  hgvsp: ENST00000443829.1:c.505G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11415
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1800Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

3-47044240-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47044240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47044241
    reference: chr 3
allele count: 1
allele frequency: 2.391314744846717e-5
allele num: 41818
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000415034
  ensembl transcript: ENST00000450053
  gene symbol: NBEAL2
  hgvsc: ENST00000450053.3:c.5413dupG
  hgvsp: ENSP00000415034.2:p.Ala1805GlyfsTer59
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000410405
  ensembl transcript: ENST00000416683
  gene symbol: NBEAL2
  hgvsc: ENST00000416683.1:c.3276dupG
  hgvsp: ENSP00000410405.1:p.Ala1093GlyfsTer59
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000292309
  ensembl transcript: ENST00000292309
  gene symbol: NBEAL2
  hgvsc: ENST00000292309.5:c.4861dupG
  hgvsp: ENSP00000292309.5:p.Ala1621GlyfsTer59
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000414560
  ensembl transcript: ENST00000443829
  gene symbol: NBEAL2
  hgvsc: ENST00000443829.1:c.518dupG
  hgvsp: ENSP00000414560.1:p.Ala174GlyfsTer59
  variant of: http://identifiers.org/hgnc/31928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160796
  ensembl protein: ENSP00000373246
  ensembl transcript: ENST00000383740
  gene symbol: NBEAL2
  hgvsc: ENST00000383740.2:c.250dupG
  hgvsp: ENSP00000373246.2:p.Ala84GlyfsTer59
  variant of: http://identifiers.org/hgnc/31928
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12510
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1805GlyfsTer59
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.415483e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 1.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 19
allele frequency: 1.150817686250757e-3
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

FS
type: SiteQuality
SIO_000300: 1.125e0

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.415644e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.415166e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.414755e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 7.28e0

VQSLOD
type: SiteQuality
SIO_000300: -9.971e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 51408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.413941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 2.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023614428688054e-5
allele num: 66146
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.41343e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 4832
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 1079
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variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

DP
type: SiteQuality
SIO_000300: 1.412734e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51277
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variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.412304e6

QD
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 4814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.75e1
variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032600454890068e-5
allele num: 65950
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.410436e6

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.75e1
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GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4814
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65950
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 9
allele frequency: 9.249743062692703e-4
allele num: 9730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.410436e6

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03692905733722e-5
allele num: 65856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.409024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.72e-1

FS
type: SiteQuality
SIO_000300: 8.334e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.792e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
SIO_000300: 1.408791e6

QD
type: SiteQuality
SIO_000300: 1.666e1

GenotypeQuality
all individuals: 717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.406173e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.39995e6

FS
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 4696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529239050648397e-5
allele num: 65392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 7.365e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.252e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.398121e6

GenotypeQuality
all individuals: 239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1052
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.035822707953856e-4
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65150
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

DP
type: SiteQuality
SIO_000300: 1.391311e6

FS
type: SiteQuality
SIO_000300: 1.081e0

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535485059730369e-5
allele num: 65126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.391793e6

FS
type: SiteQuality
SIO_000300: 1.407e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.389e1

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

GenotypeQuality
all individuals: 1245
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 48227
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variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.617942244935657e-5
allele num: 64964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.585e0

QD
type: SiteQuality
SIO_000300: 1.207e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.385652e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64858
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524855138761818e-4
allele num: 6558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

FS
type: SiteQuality
SIO_000300: 6.072e0

DP
type: SiteQuality
SIO_000300: 1.380872e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 315
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64688
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 1.373914e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 4.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.781173164734808e-5
allele num: 11388
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3442e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

DP
type: SiteQuality
SIO_000300: 1.370523e6

QD
type: SiteQuality
SIO_000300: 1.054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.612e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 144
bin: 9.25e1
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GenotypeQuality
all individuals: 1009
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variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.926829268292683e-4
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 3
allele frequency: 2.640380214750924e-4
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104240392375986e-5
allele num: 64428
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.318017443097213e-4
allele num: 9402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.361251e6

FS
type: SiteQuality
SIO_000300: 1.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 481
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GenotypeQuality
all individuals: 372
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variant carriers: 1

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064282673478076e-4
allele num: 9396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.361448e6

FS
type: SiteQuality
SIO_000300: 6.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.064282673478076e-4
allele num: 9396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552746809105307e-5
allele num: 64402
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: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 6.631e0

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.361448e6

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561329003247564e-5
allele num: 64048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.408e0

DP
type: SiteQuality
SIO_000300: 1.339033e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 358
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.08038029386344e-4
allele num: 9256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.914244963451596e-5
allele num: 11218
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.053e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.330775e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40630
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.086720278200391e-4
allele num: 9202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.788908765652952e-4
allele num: 11180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.140506249607436e-5
allele num: 63684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

DP
type: SiteQuality
SIO_000300: 1.318138e6

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.323e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1163
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571388164304346e-5
allele num: 63638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.958e0

VQSLOD
type: SiteQuality
SIO_000300: -2.013e0

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.313976e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2165
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.576e0

QD
type: SiteQuality
SIO_000300: 3.318e1

VQSLOD
type: SiteQuality
SIO_000300: -2.173e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.298763e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 3.658e0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580228184949907e-5
allele num: 63282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.588e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.289782e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.905e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

GenotypeQuality
all individuals: 820
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 704
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.183294072706436e-5
allele num: 62828
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.788e1

VQSLOD
type: SiteQuality
SIO_000300: -5.368000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.3519e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.269231e6

GenotypeQuality
all individuals: 1059
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2736
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.75e1
variant carriers: 390

GenotypeQuality
all individuals: 971
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.352941176470588e-3
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.115822361080116e-3
allele num: 8962
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.185056902523503e-4
allele num: 16168
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.827151470856934e-3
allele num: 10946
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 42
allele frequency: 6.664550936210727e-3
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 311
allele frequency: 4.966781653251565e-3
allele num: 62616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

FS
type: SiteQuality
SIO_000300: 1.302e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.253358e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 995
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.197135366711427e-5
allele num: 62556
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: 6290
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237470610073011e-4
allele num: 16162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 1.617e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.246241e6

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.114578689255461e-4
allele num: 8972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 1.617e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.246241e6

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.800307219662058e-5
allele num: 62496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
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: 6282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.367e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.227854e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.218026796589525e-4
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 2.392e0

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.210681e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.239310943115628e-4
allele num: 16138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

FS
type: SiteQuality
SIO_000300: 3.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.199386e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 992
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variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639613051319888e-5
allele num: 60990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.144706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.224e-1

FS
type: SiteQuality
SIO_000300: 6.714e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6169
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variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638806948541462e-5
allele num: 61020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
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: 8548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 1.408e0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.145528e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.826150474799123e-5
allele num: 54760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.712310377231843e-5
allele num: 14898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.455e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.297632e6

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2151
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.375515818431912e-4
allele num: 7270
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7050
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 1.292669e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 7.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 679
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.850892130006663e-5
allele num: 54028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.296877e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1182
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 684
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.852400711321873e-5
allele num: 53984
num of homozygotes: 0

African
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.795999999999999e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.145e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.363512407962912e-4
allele num: 7334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.027300986619813e-4
allele num: 14798
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 1.302581e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4534
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African
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.852126240924581e-5
allele num: 53992
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 243
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.701510216168196e-5
allele num: 54032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.849e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.307308e6

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 1.25e1
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GenotypeQuality
all individuals: 5577
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.307308e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.849e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 2.208e0

QD
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4948
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.352670857689055e-5
allele num: 54402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.333646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 3959
bin: 6.75e1
variant carriers: 3952

GenotypeQuality
all individuals: 4634
bin: 6.25e1
variant carriers: 4598

GenotypeQuality
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bin: 7.25e1
variant carriers: 1801

GenotypeQuality
all individuals: 4436
bin: 3.75e1
variant carriers: 4433

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 1103

European (Non-Finnish)
type: Population
allele count: 58624
allele frequency: 9.988754472652922e-1
allele num: 58690
num of homozygotes: 29279

African
type: Population
allele count: 6343
allele frequency: 8.405777895573814e-1
allele num: 7546
num of homozygotes: 2664

Latino
type: Population
allele count: 10415
allele frequency: 9.930396643783371e-1
allele num: 10488
num of homozygotes: 5172

East Asian
type: Population
allele count: 8132
allele frequency: 1.0e0
allele num: 8132
num of homozygotes: 4066

European (Finnish)
type: Population
allele count: 5242
allele frequency: 1.0e0
allele num: 5242
num of homozygotes: 2621

South Asian
type: Population
allele count: 15664
allele frequency: 1.0e0
allele num: 15664
num of homozygotes: 7832

Other
type: Population
allele count: 749
allele frequency: 9.93368700265252e-1
allele num: 754
num of homozygotes: 372

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.867e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.23e1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e0

DP
type: SiteQuality
SIO_000300: 1.846097e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1207
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variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.959094114881279e-5
allele num: 51044
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 7.19e0

VQSLOD
type: SiteQuality
SIO_000300: -9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 1.054167e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

FS
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 2362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.195279896387969e-5
allele num: 13898
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.004e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 7.706e0

VQSLOD
type: SiteQuality
SIO_000300: -2.457e0

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

DP
type: SiteQuality
SIO_000300: 1.047808e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

GenotypeQuality
all individuals: 541
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1296
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GenotypeQuality
all individuals: 988
bin: 1.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

VQSLOD
type: SiteQuality
SIO_000300: -3.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

DP
type: SiteQuality
SIO_000300: 1.048225e6

MQRankSum
type: SiteQuality
SIO_000300: -1.437e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.918e1

FS
type: SiteQuality
SIO_000300: 2.522e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.246376811594203e-5
allele num: 13800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.095e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.049458e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.892e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.73550850399167e-4
allele num: 5762
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.31891321551042e-4
allele num: 7582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 6.479e0

DP
type: SiteQuality
SIO_000300: 1.011041e6

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.812250815512867e-4
allele num: 5518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.61522e5

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

FS
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.680491551459293e-5
allele num: 13020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.280605728881591e-5
allele num: 43848
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.45e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.35551e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16105
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GenotypeQuality
all individuals: 722
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.472754050073638e-4
allele num: 6790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.629200999907416e-5
allele num: 43204
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

FS
type: SiteQuality
SIO_000300: 2.125e0

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 9.2223e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3815
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.980861244019139e-4
allele num: 6688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.32e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 2.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 9.11949e5

GenotypeQuality
all individuals: 24152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.789375292101573e-5
allele num: 12838
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.666666666666667e-4
allele num: 6000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.721658246376127e-5
allele num: 42358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 9.02612e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 2818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 3.036744609778318e-4
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.805182641273806e-5
allele num: 12812
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.937007874015748e-4
allele num: 5080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 7.795521118775394e-4
allele num: 42332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 9.00737e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.595914458984998e-4
allele num: 6266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12668
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.70732e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeQuality
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.534817956875221e-4
allele num: 5658
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.092925910422771e-4
allele num: 4778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.51884e5

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 2.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.524869969196586e-5
allele num: 39606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.44716e5

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 3.772e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 905
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12134
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.231146809460062e-4
allele num: 4482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 8.19322e5

VQSLOD
type: SiteQuality
SIO_000300: -2.122e-1

FS
type: SiteQuality
SIO_000300: 5.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.82e0

GenotypeQuality
all individuals: 1431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.630056283204461e-5
allele num: 38022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.806e0

FS
type: SiteQuality
SIO_000300: 6.034e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 6.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

DP
type: SiteQuality
SIO_000300: 8.1826e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1744
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.660302174995849e-4
allele num: 12046
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 2.273588480485032e-3
allele num: 5278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 4.548860109172643e-4
allele num: 37372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 8.0484e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
all individuals: 3009
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.322237017310254e-5
allele num: 12016
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.867762420620097e-4
allele num: 5354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.295684113865932e-4
allele num: 4356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.7009507346586e-5
allele num: 37024
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 8.00712e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.319109461966605e-4
allele num: 4312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.722866633992267e-5
allele num: 36726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.504591751544498e-4
allele num: 11978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.886792452830189e-4
allele num: 5300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

FS
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 7.9562e5

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.347164219318335e-4
allele num: 29692
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.720747295968535e-3
allele num: 4068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.21e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.76303e5

GenotypeQuality
all individuals: 1987
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30459
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 3.579952267303103e-3
allele num: 1676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 7.461168011937869e-4
allele num: 29486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.254e0

DP
type: SiteQuality
SIO_000300: 6.7525e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2622
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.316191540898081e-5
allele num: 10734
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.54237e5

QD
type: SiteQuality
SIO_000300: 7.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.664e0

VQSLOD
type: SiteQuality
SIO_000300: -7.217e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.552e0

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

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.931435760339676e-5
allele num: 25436
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.16134e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

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

GenotypeQuality
all individuals: 1126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 6.09679e5

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1