19-49414484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414484
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414484
    reference: chr 19
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.455G>A
  hgvsp: ENSP00000385211.1:p.Arg152His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.455G>A
  hgvsp: ENSP00000385923.3:p.Arg152His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9927G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.364G>A
  hgvsp: ENSP00000389734.1:p.Arg122His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-53C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.455G>A
  hgvsp: ENSP00000389007.1:p.Arg152His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.455G>A
  hgvsp: ENSP00000263273.5:p.Arg152His
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg152His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS

19-49414485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414485
    reference: chr 19
allele count: 7
allele frequency: 5.804793100588772e-5
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.456C>T
  hgvsp: ENST00000263273.5:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.456C>T
  hgvsp: ENST00000452087.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.456C>T
  hgvsp: ENST00000407032.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.365C>T
  hgvsp: ENST00000424608.1:c.365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.11C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9926C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-54G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.456C>T
  hgvsp: ENST00000405315.4:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg152Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-49414486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414486
    reference: chr 19
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.457G>A
  hgvsp: ENSP00000389007.1:p.Asp153Asn
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.457G>A
  hgvsp: ENSP00000263273.5:p.Asp153Asn
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-55C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9925G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.366G>A
  hgvsp: ENSP00000389734.1:p.Asp123Asn
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.457G>A
  hgvsp: ENSP00000385923.3:p.Asp153Asn
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.457G>A
  hgvsp: ENSP00000385211.1:p.Asp153Asn
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.12G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp153Asn
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: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-49414500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414500
    reference: chr 19
allele count: 45
allele frequency: 3.75143805125298e-4
allele num: 119954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.380G>A
  hgvsp: ENST00000424608.1:c.380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.471G>A
  hgvsp: ENST00000407032.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.26G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.471G>A
  hgvsp: ENST00000405315.4:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.471G>A
  hgvsp: ENST00000452087.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-69C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9911G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.471G>A
  hgvsp: ENST00000263273.5:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-49414500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414500
    reference: chr 19
allele count: 1
allele frequency: 8.3365290027844e-6
allele num: 119954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-69C>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.471G>T
  hgvsp: ENST00000452087.1:c.471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9911G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.471G>T
  hgvsp: ENST00000263273.5:c.471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.26G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.471G>T
  hgvsp: ENST00000405315.4:c.471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.380G>T
  hgvsp: ENST00000424608.1:c.380G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.471G>T
  hgvsp: ENST00000407032.1:c.471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-49414508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414508
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414508
    reference: chr 19
allele count: 33
allele frequency: 2.762060999698684e-4
allele num: 119476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-77G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.388C>T
  hgvsp: ENSP00000389734.1:p.Thr130Met
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.479C>T
  hgvsp: ENSP00000385211.1:p.Thr160Met
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9903C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.34C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.479C>T
  hgvsp: ENSP00000263273.5:p.Thr160Met
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.479C>T
  hgvsp: ENSP00000389007.1:p.Thr160Met
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.479C>T
  hgvsp: ENSP00000385923.3:p.Thr160Met
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr160Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-49414513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414513
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414513
    reference: chr 19
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+4A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-82T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9898A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: c.480+4A>G
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: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-49414514-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414514
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414514
    reference: chr 19
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+5T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9897T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+5T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+5T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+5T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-83A>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+5T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+5T>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
hgvs: c.480+5T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-49414519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414519
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414519
    reference: chr 19
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-88C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9892G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43955
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-49414520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414520
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414520
    reference: chr 19
allele count: 2
allele frequency: 1.696554298220315e-5
allele num: 117886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+11T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+11T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9891T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+11T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+11T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+11T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-89A>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+11T>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49414527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414527
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414527
    reference: chr 19
allele count: 16
allele frequency: 1.376367765466933e-4
allele num: 116248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+18G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+18G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+18G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+18G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+18G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-96C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9884G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+18G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49414536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414536
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414536
    reference: chr 19
allele count: 1
allele frequency: 8.663409224798143e-6
allele num: 115428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9875G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-105C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+27G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+27G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+27G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+27G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+27G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+27G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-49414538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414538
    reference: chr 19
allele count: 6
allele frequency: 5.206344798861546e-5
allele num: 115244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9873A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-107T>C
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22828
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-49414544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414544
    reference: chr 19
allele count: 1
allele frequency: 8.780710535096499e-6
allele num: 113886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9867G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-113C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+35G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49414554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414554
    reference: chr 19
allele count: 5
allele frequency: 4.57657525720353e-5
allele num: 109252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-123G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+45C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9857C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16801
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-49414555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414555
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414555
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 108774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+46G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+46G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-124C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9856G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+46G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+46G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+46G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+46G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-49414561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49414561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49414561
    reference: chr 19
allele count: 3
allele frequency: 2.855565497153953e-5
allele num: 105058
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.480+52G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-9850G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.480+52G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.35+52G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.389+52G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.480+52G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-130C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.480+52G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16220
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-49416221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416221
    reference: chr 19
allele count: 1
allele frequency: 9.147289658074313e-6
allele num: 109322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1790C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-47G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8190G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-49416222-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416222
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416222
    reference: chr 19
allele count: 1
allele frequency: 9.151810228063111e-6
allele num: 109268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-46G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8189G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-46G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-46G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-46G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1791C>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-46G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-46G>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-49416224-TGGGCAGAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416224
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416215
    reference: chr 19
allele count: 1
allele frequency: 9.145114679738084e-6
allele num: 109348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: TGGGCAGAGG
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-49416228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416228
    reference: chr 19
allele count: 144
allele frequency: 1.313557002900772e-3
allele num: 109626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8183C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1797G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-40C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-49416229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416229
    reference: chr 19
allele count: 1
allele frequency: 9.08909127265456e-6
allele num: 110022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8182A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1798T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-39A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-49416231-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416232
    reference: chr 19
allele count: 11
allele frequency: 9.979134536877439e-5
allele num: 110230
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8175dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-32dupG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1801dupC
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49416232-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416232
    reference: chr 19
allele count: 1
allele frequency: 9.065361254645998e-6
allele num: 110310
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1801C>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-36G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8179G>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-49416233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416233
    reference: chr 19
allele count: 32
allele frequency: 2.894513088626373e-4
allele num: 110554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1802C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-35G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8178G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11566
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 17153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-49416234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416234
    reference: chr 19
allele count: 2
allele frequency: 1.806684733514002e-5
allele num: 110700
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-34G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1803C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8177G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-34G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-34G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-34G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-34G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-34G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-49416237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416237
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416237
    reference: chr 19
allele count: 14
allele frequency: 1.261966143251185e-4
allele num: 110938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-31C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-31C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-31C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8174C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-31C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-31C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1806G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-31C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11563
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49416245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416245
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416245
    reference: chr 19
allele count: 1
allele frequency: 8.890311338703082e-6
allele num: 112482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-23A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8166A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1814T>C
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-49416247-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416247
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416247
    reference: chr 19
allele count: 1
allele frequency: 8.867449366864115e-6
allele num: 112772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-21T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-21T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-21T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1816A>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-21T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8164T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-21T>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-21T>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19287
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-49416248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416248
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416248
    reference: chr 19
allele count: 4
allele frequency: 3.542205377067762e-5
allele num: 112924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8163G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-20G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1817C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-20G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-20G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-20G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-20G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-20G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11575
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

19-49416249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416249
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416249
    reference: chr 19
allele count: 1
allele frequency: 8.843140376010329e-6
allele num: 113082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8162A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-19A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1818T>C
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-49416252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416252
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416252
    reference: chr 19
allele count: 4
allele frequency: 3.520197131039338e-5
allele num: 113630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.390-16C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1821G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8159C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.481-16C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.481-16C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.481-16C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.481-16C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.36-16C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

19-49416270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416270
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416270
    reference: chr 19
allele count: 1
allele frequency: 8.550662676357418e-6
allele num: 116950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.483C>T
  hgvsp: ENST00000452087.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8141C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.483C>T
  hgvsp: ENST00000405315.4:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.483C>T
  hgvsp: ENST00000407032.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.483C>T
  hgvsp: ENST00000263273.5:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1839G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.392C>T
  hgvsp: ENST00000424608.1:c.392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.38C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.75e1
  variant carriers: 0
hgvs: c.483C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-49416271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416271
    reference: chr 19
allele count: 47
allele frequency: 4.009144260952641e-4
allele num: 117232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1840T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.484A>G
  hgvsp: ENSP00000263273.5:p.Thr162Ala
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.484A>G
  hgvsp: ENSP00000385211.1:p.Thr162Ala
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.393A>G
  hgvsp: ENSP00000389734.1:p.Thr132Ala
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.484A>G
  hgvsp: ENSP00000385923.3:p.Thr162Ala
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.484A>G
  hgvsp: ENSP00000389007.1:p.Thr162Ala
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.39A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8140A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15956
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr162Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49416272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416272
    reference: chr 19
allele count: 1
allele frequency: 8.522533578782301e-6
allele num: 117336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8139C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1841G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.485C>T
  hgvsp: ENSP00000385211.1:p.Thr162Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.485C>T
  hgvsp: ENSP00000263273.5:p.Thr162Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.485C>T
  hgvsp: ENSP00000385923.3:p.Thr162Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.485C>T
  hgvsp: ENSP00000389007.1:p.Thr162Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.40C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.394C>T
  hgvsp: ENSP00000389734.1:p.Thr132Ile
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr162Ile
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: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-49416274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416274
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416274
    reference: chr 19
allele count: 1
allele frequency: 8.495599279573181e-6
allele num: 117708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.487C>T
  hgvsp: ENSP00000385211.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8137C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.396C>T
  hgvsp: ENSP00000389734.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.487C>T
  hgvsp: ENSP00000385923.3:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.487C>T
  hgvsp: ENSP00000389007.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.42C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.487C>T
  hgvsp: ENSP00000263273.5:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1843G>A
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg163Trp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-49416275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416275
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416275
    reference: chr 19
allele count: 2
allele frequency: 1.692333728211203e-5
allele num: 118180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1844C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8136G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.43G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.488G>A
  hgvsp: ENSP00000385211.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.397G>A
  hgvsp: ENSP00000389734.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.488G>A
  hgvsp: ENSP00000263273.5:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.488G>A
  hgvsp: ENSP00000385923.3:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.488G>A
  hgvsp: ENSP00000389007.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22134
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg163Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-49416277-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416277
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416277
    reference: chr 19
allele count: 1
allele frequency: 8.435970980259829e-6
allele num: 118540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1846C>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.490G>C
  hgvsp: ENSP00000385923.3:p.Asp164His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.45G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.399G>C
  hgvsp: ENSP00000389734.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.490G>C
  hgvsp: ENSP00000263273.5:p.Asp164His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.490G>C
  hgvsp: ENSP00000385211.1:p.Asp164His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.490G>C
  hgvsp: ENSP00000389007.1:p.Asp164His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8134G>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11594
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp164His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-49416278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416278
    reference: chr 19
allele count: 1
allele frequency: 8.425735566714975e-6
allele num: 118684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.400A>G
  hgvsp: ENSP00000389734.1:p.Asp134Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.46A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.491A>G
  hgvsp: ENSP00000385923.3:p.Asp164Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.491A>G
  hgvsp: ENSP00000385211.1:p.Asp164Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.491A>G
  hgvsp: ENSP00000389007.1:p.Asp164Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.491A>G
  hgvsp: ENSP00000263273.5:p.Asp164Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8133A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1847T>C
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp164Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

19-49416280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416280
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416280
    reference: chr 19
allele count: 1
allele frequency: 8.403361344537815e-6
allele num: 119000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.493C>T
  hgvsp: ENSP00000389007.1:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8131C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.493C>T
  hgvsp: ENSP00000385211.1:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.402C>T
  hgvsp: ENSP00000389734.1:p.Leu135Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1849G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.493C>T
  hgvsp: ENSP00000385923.3:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.48C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.493C>T
  hgvsp: ENSP00000263273.5:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu165Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-49416284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416284
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416284
    reference: chr 19
allele count: 2
allele frequency: 1.675350567106167e-5
allele num: 119378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.497C>T
  hgvsp: ENSP00000263273.5:p.Ala166Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.497C>T
  hgvsp: ENSP00000385923.3:p.Ala166Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.497C>T
  hgvsp: ENSP00000385211.1:p.Ala166Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8127C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.497C>T
  hgvsp: ENSP00000389007.1:p.Ala166Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.406C>T
  hgvsp: ENSP00000389734.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1853G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.52C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala166Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49416286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416286
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416286
    reference: chr 19
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8125C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.54C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.499C>T
  hgvsp: ENSP00000263273.5:p.Gln167Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.499C>T
  hgvsp: ENSP00000389007.1:p.Gln167Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1855G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.408C>T
  hgvsp: ENSP00000389734.1:p.Gln137Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.499C>T
  hgvsp: ENSP00000385211.1:p.Gln167Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.499C>T
  hgvsp: ENSP00000385923.3:p.Gln167Ter
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln167Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-49416290-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416290
    reference: chr 19
allele count: 5
allele frequency: 4.165000666400107e-5
allele num: 120048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.58A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8121A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.503A>T
  hgvsp: ENSP00000389007.1:p.Tyr168Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.503A>T
  hgvsp: ENSP00000385923.3:p.Tyr168Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.503A>T
  hgvsp: ENSP00000263273.5:p.Tyr168Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1859T>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.503A>T
  hgvsp: ENSP00000385211.1:p.Tyr168Phe
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.412A>T
  hgvsp: ENSP00000389734.1:p.Tyr138Phe
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr168Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-49416291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416291
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416291
    reference: chr 19
allele count: 4
allele frequency: 3.330668798294697e-5
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8120C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1860G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.59C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.504C>T
  hgvsp: ENST00000263273.5:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.413C>T
  hgvsp: ENST00000424608.1:c.413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.504C>T
  hgvsp: ENST00000405315.4:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.504C>T
  hgvsp: ENST00000407032.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.504C>T
  hgvsp: ENST00000452087.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr168Tyr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-49416294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416294
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416294
    reference: chr 19
allele count: 5
allele frequency: 4.150479795464356e-5
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.507C>T
  hgvsp: ENST00000263273.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.416C>T
  hgvsp: ENST00000424608.1:c.416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.507C>T
  hgvsp: ENST00000407032.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1863G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.507C>T
  hgvsp: ENST00000452087.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.507C>T
  hgvsp: ENST00000405315.4:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.62C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8117C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp169Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

19-49416295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416295
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416295
    reference: chr 19
allele count: 6
allele frequency: 4.976527379194798e-5
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.508G>A
  hgvsp: ENSP00000385923.3:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8116G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.508G>A
  hgvsp: ENSP00000263273.5:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1864C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.417G>A
  hgvsp: ENSP00000389734.1:p.Ala140Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.508G>A
  hgvsp: ENSP00000389007.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.508G>A
  hgvsp: ENSP00000385211.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.63G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7641
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala170Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49416307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416307
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416307
    reference: chr 19
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.520G>A
  hgvsp: ENSP00000263273.5:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.520G>A
  hgvsp: ENSP00000389007.1:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1876C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.429G>A
  hgvsp: ENSP00000389734.1:p.Glu144Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8104G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.520G>A
  hgvsp: ENSP00000385211.1:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.520G>A
  hgvsp: ENSP00000385923.3:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.75G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11606
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu174Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS

19-49416319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416319
    reference: chr 19
allele count: 3
allele frequency: 2.474145182839329e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.532C>T
  hgvsp: ENSP00000385923.3:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.532C>T
  hgvsp: ENSP00000385211.1:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.532C>T
  hgvsp: ENSP00000389007.1:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.441C>T
  hgvsp: ENSP00000389734.1:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1888G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8092C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.532C>T
  hgvsp: ENSP00000263273.5:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.87C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg178Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-49416321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416321
    reference: chr 19
allele count: 15
allele frequency: 1.236746203189156e-4
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1890G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.89C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.534C>T
  hgvsp: ENST00000263273.5:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.534C>T
  hgvsp: ENST00000405315.4:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.534C>T
  hgvsp: ENST00000407032.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.534C>T
  hgvsp: ENST00000452087.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8090C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.443C>T
  hgvsp: ENST00000424608.1:c.443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg178Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-49416322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416322
    reference: chr 19
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.535T>C
  hgvsp: ENSP00000385211.1:p.Tyr179His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8089T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.535T>C
  hgvsp: ENSP00000385923.3:p.Tyr179His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.444T>C
  hgvsp: ENSP00000389734.1:p.Tyr149His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.535T>C
  hgvsp: ENSP00000263273.5:p.Tyr179His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1891A>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.90T>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.535T>C
  hgvsp: ENSP00000389007.1:p.Tyr179His
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr179His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

19-49416324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416324
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416324
    reference: chr 19
allele count: 4
allele frequency: 3.297228679295053e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.537C>T
  hgvsp: ENST00000407032.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.537C>T
  hgvsp: ENST00000452087.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1893G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.446C>T
  hgvsp: ENST00000424608.1:c.446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.92C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.537C>T
  hgvsp: ENST00000405315.4:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.537C>T
  hgvsp: ENST00000263273.5:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8087C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr179Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-49416338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416338
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416338
    reference: chr 19
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.551A>G
  hgvsp: ENSP00000389007.1:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.460A>G
  hgvsp: ENSP00000389734.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1907T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.551A>G
  hgvsp: ENSP00000385923.3:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.551A>G
  hgvsp: ENSP00000263273.5:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.106A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8073A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.551A>G
  hgvsp: ENSP00000385211.1:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu184Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-49416339-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416339
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416339
    reference: chr 19
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8072A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.552A>G
  hgvsp: ENST00000407032.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1908T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.552A>G
  hgvsp: ENST00000405315.4:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.552A>G
  hgvsp: ENST00000263273.5:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.107A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.461A>G
  hgvsp: ENST00000424608.1:c.461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.552A>G
  hgvsp: ENST00000452087.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu184Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-49416339-ACACGAGAGACGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416339
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416327
    reference: chr 19
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsp: ENSP00000385211.1:p.His185_Arg188del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsp: ENSP00000385923.3:p.His185_Arg188del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsp: ENSP00000389007.1:p.His185_Arg188del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsp: ENSP00000263273.5:p.His185_Arg188del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsp: ENSP00000389734.1:p.His155_Arg158del
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His185_Arg188del
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: ACACGAGAGACGG
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-49416342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416342
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416342
    reference: chr 19
allele count: 261
allele frequency: 2.150555354141261e-3
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.110C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.555C>T
  hgvsp: ENST00000452087.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.555C>T
  hgvsp: ENST00000405315.4:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.555C>T
  hgvsp: ENST00000407032.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.464C>T
  hgvsp: ENST00000424608.1:c.464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.555C>T
  hgvsp: ENST00000263273.5:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8069C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1911G>A
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17174
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His185His
num of homozygotes: 3
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-49416343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416343
    reference: chr 19
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1912C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.556G>A
  hgvsp: ENSP00000263273.5:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.111G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8068G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.556G>A
  hgvsp: ENSP00000385923.3:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.465G>A
  hgvsp: ENSP00000389734.1:p.Glu156Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.556G>A
  hgvsp: ENSP00000385211.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.556G>A
  hgvsp: ENSP00000389007.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu186Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-49416348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416348
    reference: chr 19
allele count: 8
allele frequency: 6.590545861961017e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.470A>G
  hgvsp: ENST00000424608.1:c.470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.561A>G
  hgvsp: ENST00000405315.4:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1917T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.116A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.561A>G
  hgvsp: ENST00000452087.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.561A>G
  hgvsp: ENST00000263273.5:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.561A>G
  hgvsp: ENST00000407032.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8063A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg187Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-49416349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416349
    reference: chr 19
allele count: 8
allele frequency: 6.590763045591603e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.471C>T
  hgvsp: ENSP00000389734.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8062C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1918G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.562C>T
  hgvsp: ENSP00000385923.3:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.562C>T
  hgvsp: ENSP00000389007.1:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.117C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.562C>T
  hgvsp: ENSP00000263273.5:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.562C>T
  hgvsp: ENSP00000385211.1:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg188Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-49416350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416350
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416350
    reference: chr 19
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.472G>A
  hgvsp: ENSP00000389734.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8061G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1919C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.563G>A
  hgvsp: ENSP00000389007.1:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.118G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.563G>A
  hgvsp: ENSP00000385923.3:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.563G>A
  hgvsp: ENSP00000385211.1:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.563G>A
  hgvsp: ENSP00000263273.5:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg188Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49416353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416353
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416353
    reference: chr 19
allele count: 12
allele frequency: 9.885981677980623e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.566G>A
  hgvsp: ENSP00000263273.5:p.Arg189His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1922C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.566G>A
  hgvsp: ENSP00000385923.3:p.Arg189His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.475G>A
  hgvsp: ENSP00000389734.1:p.Arg159His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.566G>A
  hgvsp: ENSP00000385211.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.121G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8058G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.566G>A
  hgvsp: ENSP00000389007.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg189His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-49416366-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416366
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416366
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1935T>G
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.579A>C
  hgvsp: ENST00000452087.1:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.579A>C
  hgvsp: ENST00000407032.1:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.579A>C
  hgvsp: ENST00000263273.5:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.579A>C
  hgvsp: ENST00000405315.4:c.579A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.488A>C
  hgvsp: ENST00000424608.1:c.488A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8045A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.134A>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7774
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser193Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-49416385-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416385
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416382
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.511_513delAGG
  hgvsp: ENSP00000389734.1:p.Glu171del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.602_604delAGG
  hgvsp: ENSP00000385923.3:p.Glu201del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.602_604delAGG
  hgvsp: ENSP00000385211.1:p.Glu201del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.602_604delAGG
  hgvsp: ENSP00000389007.1:p.Glu201del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.157_159delAGG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.602_604delAGG
  hgvsp: ENSP00000263273.5:p.Glu201del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8022_35-8020delAGG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1957_189-1955delCCT
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu201del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: AAGG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

19-49416386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416386
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416386
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.508A>G
  hgvsp: ENSP00000389734.1:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1955T>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.599A>G
  hgvsp: ENSP00000389007.1:p.Lys200Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.599A>G
  hgvsp: ENSP00000385211.1:p.Lys200Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.599A>G
  hgvsp: ENSP00000385923.3:p.Lys200Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.154A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.599A>G
  hgvsp: ENSP00000263273.5:p.Lys200Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8025A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys200Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49416391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416391
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416391
    reference: chr 19
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.604G>A
  hgvsp: ENSP00000385923.3:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.604G>A
  hgvsp: ENSP00000385211.1:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.513G>A
  hgvsp: ENSP00000389734.1:p.Ala172Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.604G>A
  hgvsp: ENSP00000263273.5:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8020G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1960C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.604G>A
  hgvsp: ENSP00000389007.1:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.159G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala202Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-49416392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416392
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416392
    reference: chr 19
allele count: 8
allele frequency: 6.591740549091988e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.160C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.605C>T
  hgvsp: ENSP00000263273.5:p.Ala202Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8019C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.514C>T
  hgvsp: ENSP00000389734.1:p.Ala172Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.605C>T
  hgvsp: ENSP00000385923.3:p.Ala202Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.605C>T
  hgvsp: ENSP00000389007.1:p.Ala202Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.605C>T
  hgvsp: ENSP00000385211.1:p.Ala202Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1961G>A
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala202Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-49416393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416393
    reference: chr 19
allele count: 23
allele frequency: 1.895187870797627e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.606G>A
  hgvsp: ENST00000407032.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.606G>A
  hgvsp: ENST00000405315.4:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1962C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.606G>A
  hgvsp: ENST00000452087.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.606G>A
  hgvsp: ENST00000263273.5:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8018G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.515G>A
  hgvsp: ENST00000424608.1:c.515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.161G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala202Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-49416400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416400
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416400
    reference: chr 19
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.168A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.613A>G
  hgvsp: ENSP00000385923.3:p.Lys205Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.522A>G
  hgvsp: ENSP00000389734.1:p.Lys175Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.613A>G
  hgvsp: ENSP00000385211.1:p.Lys205Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.613A>G
  hgvsp: ENSP00000263273.5:p.Lys205Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.613A>G
  hgvsp: ENSP00000389007.1:p.Lys205Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8011A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1969T>C
  variant of: http://identifiers.org/hgnc/40419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys205Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-49416403-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416403
    reference: chr 19
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.616C>G
  hgvsp: ENSP00000263273.5:p.Leu206Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.616C>G
  hgvsp: ENSP00000389007.1:p.Leu206Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.616C>G
  hgvsp: ENSP00000385211.1:p.Leu206Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.525C>G
  hgvsp: ENSP00000389734.1:p.Leu176Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.616C>G
  hgvsp: ENSP00000385923.3:p.Leu206Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1972G>C
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.171C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8008C>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11635
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu206Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-49416406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416406
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416406
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.619G>A
  hgvsp: ENSP00000385923.3:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1975C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.528G>A
  hgvsp: ENSP00000389734.1:p.Glu177Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.619G>A
  hgvsp: ENSP00000385211.1:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.174G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-8005G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.619G>A
  hgvsp: ENSP00000263273.5:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.619G>A
  hgvsp: ENSP00000389007.1:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu207Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

19-49416418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416418
    reference: chr 19
allele count: 5
allele frequency: 4.136265118049007e-5
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1987G>A
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.186C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.631C>T
  hgvsp: ENSP00000385923.3:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.540C>T
  hgvsp: ENSP00000389734.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.631C>T
  hgvsp: ENSP00000389007.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.631C>T
  hgvsp: ENSP00000385211.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.631C>T
  hgvsp: ENSP00000263273.5:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-7993C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg211Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-49416419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49416419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49416419
    reference: chr 19
allele count: 7
allele frequency: 5.790292161598783e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.632G>A
  hgvsp: ENSP00000385211.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389007
  ensembl transcript: ENST00000452087
  gene symbol: NUCB1
  hgvsc: ENST00000452087.1:c.632G>A
  hgvsp: ENSP00000389007.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.632G>A
  hgvsp: ENSP00000385923.3:p.Arg211His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.632G>A
  hgvsp: ENSP00000263273.5:p.Arg211His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235191
  ensembl transcript: ENST00000416432
  gene symbol: NUCB1-AS1
  hgvsc: ENST00000416432.1:n.189-1988C>T
  variant of: http://identifiers.org/hgnc/40419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.35-7992G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.187G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000389734
  ensembl transcript: ENST00000424608
  gene symbol: NUCB1
  hgvsc: ENST00000424608.1:c.541G>A
  hgvsp: ENSP00000389734.1:p.Arg181His
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17009
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg211His
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.123e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.547e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 1.469956e6

QD
type: SiteQuality
SIO_000300: 7.27e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 6.701e0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4332
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.372922861640721e-4
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 9.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.470321e6

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.881e1

FS
type: SiteQuality
SIO_000300: 1.645e0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -4.648e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.469957e6

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48423
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

East Asian
type: Population
allele count: 45
allele frequency: 5.213160333642261e-3
allele num: 8632
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 1.461253e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.461253e6

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.974063838187506e-4
allele num: 65854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.063725490196078e-3
allele num: 6528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 1.451409e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46903
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
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: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-5
allele num: 65620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.646e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 1.2308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.43816e6

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.917424647761727e-5
allele num: 11214
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.430054e6

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.567e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 1.016e1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 994
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-5
allele num: 65080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.897e-1

BaseQRankSum
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SIO_000300: -4.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 1.405643e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.311e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.002803925495694e-4
allele num: 9986
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.781e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.399577e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.495165616617803e-4
allele num: 64124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.32879e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.892e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15674
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: 8342
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.570203812454857e-5
allele num: 63686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.264475e6

QD
type: SiteQuality
SIO_000300: 6.54e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.437226713643084e-5
allele num: 63578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.240207e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.396729937981582e-5
allele num: 10642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.841e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

African
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allele count: 2
allele frequency: 2.176278563656148e-4
allele num: 9190
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.660522732556209e-5
allele num: 60222
num of homozygotes: 0

South Asian
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allele frequency: 1.335648457326032e-4
allele num: 14974
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

ClippingRankSum
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SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.114068e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60014
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9138
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2244e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57978
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African
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allele count: 3
allele frequency: 3.398278205709108e-4
allele num: 8828
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

DP
type: SiteQuality
SIO_000300: 1.108422e6

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13227
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.507510933637573e-5
allele num: 10518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.706312e6

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

GenotypeQuality
all individuals: 13365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607768738544648e-5
allele num: 62198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.707981e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 2.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.496e0

VQSLOD
type: SiteQuality
SIO_000300: -5.795e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.055297593921486e-4
allele num: 9476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 6.652e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

DP
type: SiteQuality
SIO_000300: 1.716469e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 3027
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 11612
bin: 9.75e1
variant carriers: 141

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.182736455463728e-4
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.762651027144826e-3
allele num: 62406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.269035532994924e-3
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049317943336831e-4
allele num: 9530
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 2.358045651763818e-3
allele num: 10602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 1.73069e6

QD
type: SiteQuality
SIO_000300: 1.223e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.122e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59846547314578e-5
allele num: 62560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.43e0

DP
type: SiteQuality
SIO_000300: 1.739572e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

VQSLOD
type: SiteQuality
SIO_000300: -8.552e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 4.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 4284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
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variant carriers: 0

GenotypeQuality
all individuals: 16668
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variant carriers: 2

GenotypeQuality
all individuals: 737
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 952
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11546
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3744
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variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62646
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.243852837862821e-4
allele num: 10818
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.028e1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

DP
type: SiteQuality
SIO_000300: 1.749431e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594845459474977e-5
allele num: 62702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
SIO_000300: 1.709e1

DP
type: SiteQuality
SIO_000300: 1.753916e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.357e0

VQSLOD
type: SiteQuality
SIO_000300: -1.758e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.934577058992072e-4
allele num: 62822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.757e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.425e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.758156e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11549
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variant carriers: 2

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.370229912301493e-4
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e0

FS
type: SiteQuality
SIO_000300: 6.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 1.760729e6

MQRankSum
type: SiteQuality
SIO_000300: -9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.501e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 288
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 717
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GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 4370
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GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.231527093596059e-3
allele num: 11368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 1.768275e6

FS
type: SiteQuality
SIO_000300: 1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568135486906069e-5
allele num: 63770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 2.98e0

DP
type: SiteQuality
SIO_000300: 1.791106e6

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2846
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63910
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -9.233e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.794555e6

QD
type: SiteQuality
SIO_000300: 1.425e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.252540094413355e-5
allele num: 63974
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.796694e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 3.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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bin: 6.25e1
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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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
all individuals: 86
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GenotypeQuality
all individuals: 2845
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561475281846288e-5
allele num: 64042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.545e1

FS
type: SiteQuality
SIO_000300: 1.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.798735e6

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 209
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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

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11585
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.228201295465869e-5
allele num: 64224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

DP
type: SiteQuality
SIO_000300: 1.804907e6

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.194244604316547e-5
allele num: 13900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.837349e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 47

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65310
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 3.26519023282226e-3
allele num: 14088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.841187e6

FS
type: SiteQuality
SIO_000300: 2.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.072e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0336e1

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.841666e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1822
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GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21775
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.84705e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -6.281e-1

FS
type: SiteQuality
SIO_000300: 9.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e0

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.850624e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 1.854024e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.676458806249166e-5
allele num: 14978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 1.926e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.855555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 3.311e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.859495e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: -7.099999999999999e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

GenotypeQuality
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variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.401229035974907e-5
allele num: 15622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5
allele frequency: 3.158958807177155e-4
allele num: 15828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.1187e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.955e1

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23606
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.539203860072376e-5
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 898
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 1.877711e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.697e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.027909219687151e-5
allele num: 66358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
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: 1
allele frequency: 6.196554715578138e-5
allele num: 16138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.879052e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.0e1

DP
type: SiteQuality
SIO_000300: 1.88586e6

FS
type: SiteQuality
SIO_000300: 2.357e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.888681e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 3.8e0

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 14
allele frequency: 8.493084202863383e-4
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.890133e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.889346e6

VQSLOD
type: SiteQuality
SIO_000300: -3.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.23e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 3.029568589432865e-4
allele num: 16504
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.89059e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11612
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.89059e6

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 5.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11796
bin: 9.75e1
variant carriers: 257

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 16
allele frequency: 1.537870049980777e-3
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036627505183138e-3
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 184
allele frequency: 2.758537974873317e-3
allele num: 66702
num of homozygotes: 2

South Asian
type: Population
allele count: 33
allele frequency: 1.999272991639404e-3
allele num: 16506
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

DP
type: SiteQuality
SIO_000300: 1.910271e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

DP
type: SiteQuality
SIO_000300: 1.89314e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 24381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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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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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

GenotypeQuality
all individuals: 11645
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3924
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493780162465154e-5
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.893804e6

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 11647
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variant carriers: 8

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 24382
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variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

DP
type: SiteQuality
SIO_000300: 1.893704e6

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.853e1

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

DP
type: SiteQuality
SIO_000300: 1.89343e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 11645
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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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
all individuals: 2869
bin: 9.25e1
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: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.266e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.126e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.894058e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2072
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1.498756032493031e-5
allele num: 66722
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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.789999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.103e0

DP
type: SiteQuality
SIO_000300: 1.893356e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2869
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GenotypeQuality
all individuals: 4614
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.893074e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
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DP
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10400
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
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Latino
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allele num: 11578
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South Asian
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allele num: 16506
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.99592277251469e-5
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 1.893262e6

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

South Asian
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allele count: 21
allele frequency: 1.272418807561803e-3
allele num: 16504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.894004e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
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SIO_000300: 1.11e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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European (Finnish)
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allele count: 0
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 1
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allele num: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
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Latino
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.507346975570179e-5
allele num: 66558
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South Asian
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allele num: 16218
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Latino
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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