22-43280393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280393
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280393
    reference: chr 22
allele count: 1
allele frequency: 8.376472164982996e-6
allele num: 119382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.784G>C
  hgvsp: ENSP00000385952.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.784G>C
  hgvsp: ENSP00000338379.4:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.784G>C
  hgvsp: ENSP00000385040.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.784G>C
  hgvsp: ENSP00000263246.3:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.784G>C
  hgvsp: ENSP00000385372.3:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly262Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-43280395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280395
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280395
    reference: chr 22
allele count: 644
allele frequency: 5.382455201925648e-3
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.782C>T
  hgvsp: ENSP00000385372.3:p.Ala261Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.782C>T
  hgvsp: ENSP00000385040.1:p.Ala261Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.782C>T
  hgvsp: ENSP00000263246.3:p.Ala261Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.782C>T
  hgvsp: ENSP00000385952.1:p.Ala261Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.782C>T
  hgvsp: ENSP00000338379.4:p.Ala261Val
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14662
  bin: 9.75e1
  variant carriers: 627
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala261Val
num of homozygotes: 12
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-43280395-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280395
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280395
    reference: chr 22
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.782C>G
  hgvsp: ENSP00000338379.4:p.Ala261Gly
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.782C>G
  hgvsp: ENSP00000385040.1:p.Ala261Gly
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.782C>G
  hgvsp: ENSP00000385372.3:p.Ala261Gly
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.782C>G
  hgvsp: ENSP00000263246.3:p.Ala261Gly
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.782C>G
  hgvsp: ENSP00000385952.1:p.Ala261Gly
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala261Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

22-43280400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280400
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280400
    reference: chr 22
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.777T>C
  hgvsp: ENST00000263246.3:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.777T>C
  hgvsp: ENST00000407585.1:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.777T>C
  hgvsp: ENST00000337959.4:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.777T>C
  hgvsp: ENST00000402229.1:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.777T>C
  hgvsp: ENST00000403744.3:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn259Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

22-43280401-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280401
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280401
    reference: chr 22
allele count: 4
allele frequency: 3.329615262956365e-5
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.776A>T
  hgvsp: ENSP00000385372.3:p.Asn259Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.776A>T
  hgvsp: ENSP00000263246.3:p.Asn259Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.776A>T
  hgvsp: ENSP00000338379.4:p.Asn259Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.776A>T
  hgvsp: ENSP00000385040.1:p.Asn259Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.776A>T
  hgvsp: ENSP00000385952.1:p.Asn259Ile
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14106
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn259Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

22-43280401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280401
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280401
    reference: chr 22
allele count: 8
allele frequency: 6.65923052591273e-5
allele num: 120134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.776A>G
  hgvsp: ENSP00000385952.1:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.776A>G
  hgvsp: ENSP00000263246.3:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.776A>G
  hgvsp: ENSP00000385372.3:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.776A>G
  hgvsp: ENSP00000338379.4:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.776A>G
  hgvsp: ENSP00000385040.1:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn259Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

22-43280404-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280404
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280404
    reference: chr 22
allele count: 214
allele frequency: 1.778945268338099e-3
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.773C>A
  hgvsp: ENSP00000263246.3:p.Ser258Tyr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.773C>A
  hgvsp: ENSP00000385372.3:p.Ser258Tyr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.773C>A
  hgvsp: ENSP00000385952.1:p.Ser258Tyr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.773C>A
  hgvsp: ENSP00000338379.4:p.Ser258Tyr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.773C>A
  hgvsp: ENSP00000385040.1:p.Ser258Tyr
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14126
  bin: 9.75e1
  variant carriers: 214
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser258Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-43280406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280406
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280406
    reference: chr 22
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.771G>A
  hgvsp: ENST00000402229.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.771G>A
  hgvsp: ENST00000337959.4:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.771G>A
  hgvsp: ENST00000407585.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.771G>A
  hgvsp: ENST00000263246.3:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.771G>A
  hgvsp: ENST00000403744.3:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13966
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu257Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

22-43280414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280414
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280414
    reference: chr 22
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.763C>G
  hgvsp: ENSP00000385952.1:p.Leu255Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.763C>G
  hgvsp: ENSP00000385372.3:p.Leu255Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.763C>G
  hgvsp: ENSP00000263246.3:p.Leu255Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.763C>G
  hgvsp: ENSP00000385040.1:p.Leu255Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.763C>G
  hgvsp: ENSP00000338379.4:p.Leu255Val
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu255Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-43280415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280415
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280415
    reference: chr 22
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.762C>G
  hgvsp: ENSP00000385040.1:p.His254Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.762C>G
  hgvsp: ENSP00000385952.1:p.His254Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.762C>G
  hgvsp: ENSP00000263246.3:p.His254Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.762C>G
  hgvsp: ENSP00000385372.3:p.His254Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.762C>G
  hgvsp: ENSP00000338379.4:p.His254Gln
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His254Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

22-43280426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280426
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280426
    reference: chr 22
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.751G>A
  hgvsp: ENSP00000385040.1:p.Val251Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.751G>A
  hgvsp: ENSP00000385952.1:p.Val251Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.751G>A
  hgvsp: ENSP00000338379.4:p.Val251Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.751G>A
  hgvsp: ENSP00000263246.3:p.Val251Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.751G>A
  hgvsp: ENSP00000385372.3:p.Val251Ile
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13962
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val251Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

22-43280430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280430
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280430
    reference: chr 22
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.747G>A
  hgvsp: ENST00000403744.3:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.747G>A
  hgvsp: ENST00000407585.1:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.747G>A
  hgvsp: ENST00000263246.3:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.747G>A
  hgvsp: ENST00000337959.4:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.747G>A
  hgvsp: ENST00000402229.1:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13962
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu249Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-43280432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280432
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280432
    reference: chr 22
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.745C>T
  hgvsp: ENST00000337959.4:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.745C>T
  hgvsp: ENST00000407585.1:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.745C>T
  hgvsp: ENST00000263246.3:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.745C>T
  hgvsp: ENST00000402229.1:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.745C>T
  hgvsp: ENST00000403744.3:c.745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu249Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

22-43280444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280444
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280444
    reference: chr 22
allele count: 24
allele frequency: 1.982455270852951e-4
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.733C>T
  hgvsp: ENSP00000385952.1:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.733C>T
  hgvsp: ENSP00000338379.4:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.733C>T
  hgvsp: ENSP00000385040.1:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.733C>T
  hgvsp: ENSP00000385372.3:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.733C>T
  hgvsp: ENSP00000263246.3:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg245Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

22-43280452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280452
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280452
    reference: chr 22
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.725G>A
  hgvsp: ENSP00000263246.3:p.Arg242His
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.725G>A
  hgvsp: ENSP00000385372.3:p.Arg242His
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.725G>A
  hgvsp: ENSP00000338379.4:p.Arg242His
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.725G>A
  hgvsp: ENSP00000385952.1:p.Arg242His
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.725G>A
  hgvsp: ENSP00000385040.1:p.Arg242His
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg242His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

22-43280453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280453
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280453
    reference: chr 22
allele count: 17
allele frequency: 1.402756002970542e-4
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.724C>T
  hgvsp: ENSP00000385372.3:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.724C>T
  hgvsp: ENSP00000338379.4:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.724C>T
  hgvsp: ENSP00000263246.3:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.724C>T
  hgvsp: ENSP00000385040.1:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.724C>T
  hgvsp: ENSP00000385952.1:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg242Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-43280456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280456
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280456
    reference: chr 22
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.721C>T
  hgvsp: ENSP00000338379.4:p.Leu241Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.721C>T
  hgvsp: ENSP00000263246.3:p.Leu241Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.721C>T
  hgvsp: ENSP00000385952.1:p.Leu241Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.721C>T
  hgvsp: ENSP00000385040.1:p.Leu241Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.721C>T
  hgvsp: ENSP00000385372.3:p.Leu241Phe
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu241Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

22-43280456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280456
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280456
    reference: chr 22
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.721C>G
  hgvsp: ENSP00000385372.3:p.Leu241Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.721C>G
  hgvsp: ENSP00000338379.4:p.Leu241Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.721C>G
  hgvsp: ENSP00000385952.1:p.Leu241Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.721C>G
  hgvsp: ENSP00000385040.1:p.Leu241Val
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.721C>G
  hgvsp: ENSP00000263246.3:p.Leu241Val
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu241Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

22-43280457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280457
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280457
    reference: chr 22
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.720C>T
  hgvsp: ENST00000263246.3:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.720C>T
  hgvsp: ENST00000407585.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.720C>T
  hgvsp: ENST00000403744.3:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.720C>T
  hgvsp: ENST00000402229.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.720C>T
  hgvsp: ENST00000337959.4:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg240Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

22-43280459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280459
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280459
    reference: chr 22
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.718C>T
  hgvsp: ENSP00000385372.3:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.718C>T
  hgvsp: ENSP00000263246.3:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.718C>T
  hgvsp: ENSP00000338379.4:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.718C>T
  hgvsp: ENSP00000385040.1:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.718C>T
  hgvsp: ENSP00000385952.1:p.Arg240Cys
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg240Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-43280459-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280459
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280459
    reference: chr 22
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.718C>A
  hgvsp: ENSP00000263246.3:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.718C>A
  hgvsp: ENSP00000338379.4:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.718C>A
  hgvsp: ENSP00000385372.3:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.718C>A
  hgvsp: ENSP00000385952.1:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.718C>A
  hgvsp: ENSP00000385040.1:p.Arg240Ser
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg240Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-43280460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280460
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280460
    reference: chr 22
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.717A>T
  hgvsp: ENSP00000385372.3:p.Lys239Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.717A>T
  hgvsp: ENSP00000338379.4:p.Lys239Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.717A>T
  hgvsp: ENSP00000385952.1:p.Lys239Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.717A>T
  hgvsp: ENSP00000385040.1:p.Lys239Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.717A>T
  hgvsp: ENSP00000263246.3:p.Lys239Asn
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys239Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

22-43280460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280460
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280460
    reference: chr 22
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.717A>G
  hgvsp: ENST00000337959.4:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.717A>G
  hgvsp: ENST00000403744.3:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.717A>G
  hgvsp: ENST00000263246.3:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.717A>G
  hgvsp: ENST00000402229.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.717A>G
  hgvsp: ENST00000407585.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  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: 3375
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys239Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

22-43280465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280465
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280465
    reference: chr 22
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.712G>A
  hgvsp: ENSP00000385372.3:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.712G>A
  hgvsp: ENSP00000385952.1:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.712G>A
  hgvsp: ENSP00000385040.1:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.712G>A
  hgvsp: ENSP00000263246.3:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.712G>A
  hgvsp: ENSP00000338379.4:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20085
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu238Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

22-43280466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280466
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280466
    reference: chr 22
allele count: 35
allele frequency: 2.885645972462693e-4
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.711G>A
  hgvsp: ENST00000263246.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.711G>A
  hgvsp: ENST00000407585.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.711G>A
  hgvsp: ENST00000402229.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.711G>A
  hgvsp: ENST00000403744.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.711G>A
  hgvsp: ENST00000337959.4:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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
genotype quality: GenotypeQuality
  all individuals: 13921
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu237Glu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-43280469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280469
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280469
    reference: chr 22
allele count: 19
allele frequency: 1.566261087479803e-4
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.708C>T
  hgvsp: ENST00000337959.4:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.708C>T
  hgvsp: ENST00000403744.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.708C>T
  hgvsp: ENST00000402229.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.708C>T
  hgvsp: ENST00000263246.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.708C>T
  hgvsp: ENST00000407585.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13894
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe236Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

22-43280478-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280478
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280478
    reference: chr 22
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.699C>G
  hgvsp: ENSP00000263246.3:p.Cys233Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.699C>G
  hgvsp: ENSP00000385372.3:p.Cys233Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.699C>G
  hgvsp: ENSP00000385040.1:p.Cys233Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.699C>G
  hgvsp: ENSP00000385952.1:p.Cys233Trp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.699C>G
  hgvsp: ENSP00000338379.4:p.Cys233Trp
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13882
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys233Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-43280484-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280484
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280484
    reference: chr 22
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.693G>T
  hgvsp: ENSP00000338379.4:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.693G>T
  hgvsp: ENSP00000385952.1:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.693G>T
  hgvsp: ENSP00000385372.3:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.693G>T
  hgvsp: ENSP00000385040.1:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.693G>T
  hgvsp: ENSP00000263246.3:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13881
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu231Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-43280495-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280495
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280495
    reference: chr 22
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.682C>A
  hgvsp: ENSP00000385372.3:p.Gln228Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.682C>A
  hgvsp: ENSP00000385952.1:p.Gln228Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.682C>A
  hgvsp: ENSP00000385040.1:p.Gln228Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.682C>A
  hgvsp: ENSP00000263246.3:p.Gln228Lys
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.682C>A
  hgvsp: ENSP00000338379.4:p.Gln228Lys
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
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: 20153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4609
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13879
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln228Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

22-43280496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280496
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280496
    reference: chr 22
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.681G>A
  hgvsp: ENST00000263246.3:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.681G>A
  hgvsp: ENST00000403744.3:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.681G>A
  hgvsp: ENST00000402229.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.681G>A
  hgvsp: ENST00000407585.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.681G>A
  hgvsp: ENST00000337959.4:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu227Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-43280500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280500
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280500
    reference: chr 22
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.677T>C
  hgvsp: ENSP00000385952.1:p.Met226Thr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.677T>C
  hgvsp: ENSP00000263246.3:p.Met226Thr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.677T>C
  hgvsp: ENSP00000338379.4:p.Met226Thr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.677T>C
  hgvsp: ENSP00000385040.1:p.Met226Thr
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.677T>C
  hgvsp: ENSP00000385372.3:p.Met226Thr
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met226Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

22-43280510-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280510
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280510
    reference: chr 22
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.667A>C
  hgvsp: ENSP00000263246.3:p.Met223Leu
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.667A>C
  hgvsp: ENSP00000338379.4:p.Met223Leu
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.667A>C
  hgvsp: ENSP00000385372.3:p.Met223Leu
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.667A>C
  hgvsp: ENSP00000385952.1:p.Met223Leu
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.667A>C
  hgvsp: ENSP00000385040.1:p.Met223Leu
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met223Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-43280511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280511
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280511
    reference: chr 22
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.666C>T
  hgvsp: ENST00000337959.4:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.666C>T
  hgvsp: ENST00000403744.3:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.666C>T
  hgvsp: ENST00000402229.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.666C>T
  hgvsp: ENST00000263246.3:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.666C>T
  hgvsp: ENST00000407585.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20129
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr222Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-43280514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280514
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280514
    reference: chr 22
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.663G>A
  hgvsp: ENST00000403744.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.663G>A
  hgvsp: ENST00000402229.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.663G>A
  hgvsp: ENST00000263246.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.663G>A
  hgvsp: ENST00000337959.4:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.663G>A
  hgvsp: ENST00000407585.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln221Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

22-43280515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280515
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280515
    reference: chr 22
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.662A>G
  hgvsp: ENSP00000385040.1:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.662A>G
  hgvsp: ENSP00000263246.3:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.662A>G
  hgvsp: ENSP00000385952.1:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.662A>G
  hgvsp: ENSP00000338379.4:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.662A>G
  hgvsp: ENSP00000385372.3:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln221Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

22-43280515-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280515
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280515
    reference: chr 22
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.662A>C
  hgvsp: ENSP00000263246.3:p.Gln221Pro
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.662A>C
  hgvsp: ENSP00000385372.3:p.Gln221Pro
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.662A>C
  hgvsp: ENSP00000385040.1:p.Gln221Pro
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.662A>C
  hgvsp: ENSP00000338379.4:p.Gln221Pro
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.662A>C
  hgvsp: ENSP00000385952.1:p.Gln221Pro
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln221Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

22-43280521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280521
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280521
    reference: chr 22
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.656C>T
  hgvsp: ENSP00000385952.1:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.656C>T
  hgvsp: ENSP00000385040.1:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.656C>T
  hgvsp: ENSP00000263246.3:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.656C>T
  hgvsp: ENSP00000385372.3:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.656C>T
  hgvsp: ENSP00000338379.4:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr219Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

22-43280525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280525
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280525
    reference: chr 22
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.652G>A
  hgvsp: ENSP00000385040.1:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.652G>A
  hgvsp: ENSP00000263246.3:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.652G>A
  hgvsp: ENSP00000385952.1:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.652G>A
  hgvsp: ENSP00000338379.4:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.652G>A
  hgvsp: ENSP00000385372.3:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly218Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

22-43280531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280531
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280531
    reference: chr 22
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.646G>A
  hgvsp: ENSP00000385952.1:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.646G>A
  hgvsp: ENSP00000385040.1:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.646G>A
  hgvsp: ENSP00000385372.3:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.646G>A
  hgvsp: ENSP00000263246.3:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.646G>A
  hgvsp: ENSP00000338379.4:p.Asp216Asn
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19929
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp216Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

22-43280532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280532
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280532
    reference: chr 22
allele count: 13
allele frequency: 1.073120800383022e-4
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.645C>T
  hgvsp: ENST00000402229.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.645C>T
  hgvsp: ENST00000263246.3:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.645C>T
  hgvsp: ENST00000337959.4:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.645C>T
  hgvsp: ENST00000407585.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.645C>T
  hgvsp: ENST00000403744.3:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu215Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

22-43280534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280534
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280534
    reference: chr 22
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.643C>T
  hgvsp: ENSP00000338379.4:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.643C>T
  hgvsp: ENSP00000385372.3:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.643C>T
  hgvsp: ENSP00000263246.3:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.643C>T
  hgvsp: ENSP00000385040.1:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.643C>T
  hgvsp: ENSP00000385952.1:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu215Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

22-43280535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280535
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280535
    reference: chr 22
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.642A>G
  hgvsp: ENST00000263246.3:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.642A>G
  hgvsp: ENST00000337959.4:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.642A>G
  hgvsp: ENST00000402229.1:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.642A>G
  hgvsp: ENST00000403744.3:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.642A>G
  hgvsp: ENST00000407585.1:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu214Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

22-43280538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280538
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280538
    reference: chr 22
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.639G>A
  hgvsp: ENST00000263246.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.639G>A
  hgvsp: ENST00000402229.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.639G>A
  hgvsp: ENST00000407585.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.639G>A
  hgvsp: ENST00000337959.4:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.639G>A
  hgvsp: ENST00000403744.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19665
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys213Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

22-43280549-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280549
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280549
    reference: chr 22
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.628A>C
  hgvsp: ENSP00000338379.4:p.Lys210Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.628A>C
  hgvsp: ENSP00000385952.1:p.Lys210Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.628A>C
  hgvsp: ENSP00000263246.3:p.Lys210Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.628A>C
  hgvsp: ENSP00000385040.1:p.Lys210Gln
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.628A>C
  hgvsp: ENSP00000385372.3:p.Lys210Gln
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys210Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

22-43280557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280557
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280557
    reference: chr 22
allele count: 3
allele frequency: 2.491942718543377e-5
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.620A>G
  hgvsp: ENSP00000385372.3:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.620A>G
  hgvsp: ENSP00000385952.1:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.620A>G
  hgvsp: ENSP00000338379.4:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.620A>G
  hgvsp: ENSP00000385040.1:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.620A>G
  hgvsp: ENSP00000263246.3:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 18972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys207Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

22-43280565-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280565
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280565
    reference: chr 22
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.612C>G
  hgvsp: ENST00000337959.4:c.612C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.612C>G
  hgvsp: ENST00000407585.1:c.612C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.612C>G
  hgvsp: ENST00000402229.1:c.612C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.612C>G
  hgvsp: ENST00000403744.3:c.612C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.612C>G
  hgvsp: ENST00000263246.3:c.612C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
hgvs: c.612C>G
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

22-43280568-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280568
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280568
    reference: chr 22
allele count: 4
allele frequency: 3.333833408344585e-5
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-1G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-1G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-1G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-1G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-1G>C
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
hgvs: c.610-1G>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

22-43280573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280573
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280573
    reference: chr 22
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-6C>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 7.75e1
  variant carriers: 0
hgvs: c.610-6C>T
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

22-43280588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280588
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280588
    reference: chr 22
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-21T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-21T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-21T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-21T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-21T>C
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

22-43280607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280607
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280607
    reference: chr 22
allele count: 1
allele frequency: 8.485218748939348e-6
allele num: 117852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-40T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-40T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-40T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-40T>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-40T>C
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-43280613-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
allele count: 1
allele frequency: 8.539272112445135e-6
allele num: 117106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-46G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-46G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-46G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-46G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-46G>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

22-43280613-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
allele count: 1
allele frequency: 8.539272112445135e-6
allele num: 117106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-46G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-46G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-46G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-46G>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-46G>C
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13813
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-43280613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280613
    reference: chr 22
allele count: 1
allele frequency: 8.539272112445135e-6
allele num: 117106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-46G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-46G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-46G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-46G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-46G>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/22-43280614-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280614
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280614
    reference: chr 22
allele count: 1
allele frequency: 8.558126797206627e-6
allele num: 116848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-47G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-47G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-47G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-47G>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-47G>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

22-43280617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43280617
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43280617
    reference: chr 22
allele count: 1
allele frequency: 8.592246356887545e-6
allele num: 116384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.610-50A>G
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.610-50A>G
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.610-50A>G
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.610-50A>G
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.610-50A>G
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

22-43284608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284608
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284608
    reference: chr 22
allele count: 8
allele frequency: 6.648383611734397e-5
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+41G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+41G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+41G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+41G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+41G>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

22-43284610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284610
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284610
    reference: chr 22
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+39G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+39G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+39G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+39G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+39G>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
  all individuals: 185
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genotype quality: GenotypeQuality
  all individuals: 3017
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genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

22-43284611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284611
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284611
    reference: chr 22
allele count: 4
allele frequency: 3.321817698644698e-5
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+38C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+38C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+38C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+38C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+38C>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38181
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

22-43284617-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284617
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284617
    reference: chr 22
allele count: 21
allele frequency: 1.743027888446215e-4
allele num: 120480
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+32T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+32T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+32T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+32T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+32T>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38230
  bin: 9.75e1
  variant carriers: 21
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-43284620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284620
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284620
    reference: chr 22
allele count: 6
allele frequency: 4.980493068813813e-5
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+29G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+29G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+29G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+29G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+29G>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-43284621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284621
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284621
    reference: chr 22
allele count: 7
allele frequency: 5.808646585345614e-5
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+28C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+28C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+28C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+28C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+28C>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

22-43284622-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284622
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284622
    reference: chr 22
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+27T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+27T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+27T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+27T>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+27T>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-43284623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284623
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284623
    reference: chr 22
allele count: 19
allele frequency: 1.576004910499511e-4
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+26G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+26G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+26G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+26G>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+26G>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38251
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

22-43284636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284636
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284636
    reference: chr 22
allele count: 2
allele frequency: 1.657440249279014e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+13C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+13C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+13C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+13C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+13C>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

22-43284637-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284637
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284637
    reference: chr 22
allele count: 4
allele frequency: 3.314880498558027e-5
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+12A>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+12A>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+12A>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+12A>C
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+12A>C
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

22-43284643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284643
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284643
    reference: chr 22
allele count: 7
allele frequency: 5.799791207516529e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+6C>T
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+6C>T
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38282
  bin: 9.75e1
  variant carriers: 7
hgvs: c.609+6C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-43284643-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284643
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284643
    reference: chr 22
allele count: 7
allele frequency: 5.799791207516529e-5
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.609+6C>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.609+6C>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.609+6C>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.609+6C>A
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.609+6C>A
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38282
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: c.609+6C>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

22-43284655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284655
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284655
    reference: chr 22
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.603T>C
  hgvsp: ENST00000263246.3:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.603T>C
  hgvsp: ENST00000402229.1:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.603T>C
  hgvsp: ENST00000407585.1:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.603T>C
  hgvsp: ENST00000403744.3:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.603T>C
  hgvsp: ENST00000337959.4:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val201Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

22-43284661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284661
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284661
    reference: chr 22
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.597A>G
  hgvsp: ENST00000407585.1:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.597A>G
  hgvsp: ENST00000337959.4:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.597A>G
  hgvsp: ENST00000263246.3:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.597A>G
  hgvsp: ENST00000402229.1:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.597A>G
  hgvsp: ENST00000403744.3:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln199Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

22-43284670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284670
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284670
    reference: chr 22
allele count: 9
allele frequency: 7.453169253192441e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.588G>A
  hgvsp: ENST00000263246.3:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.588G>A
  hgvsp: ENST00000402229.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.588G>A
  hgvsp: ENST00000337959.4:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.588G>A
  hgvsp: ENST00000407585.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.588G>A
  hgvsp: ENST00000403744.3:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38291
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys196Lys
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-43284679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284679
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284679
    reference: chr 22
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.579A>G
  hgvsp: ENST00000403744.3:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.579A>G
  hgvsp: ENST00000407585.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.579A>G
  hgvsp: ENST00000402229.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.579A>G
  hgvsp: ENST00000263246.3:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.579A>G
  hgvsp: ENST00000337959.4:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys193Lys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

22-43284706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284706
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284706
    reference: chr 22
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.552T>C
  hgvsp: ENST00000402229.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.552T>C
  hgvsp: ENST00000337959.4:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.552T>C
  hgvsp: ENST00000407585.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.552T>C
  hgvsp: ENST00000263246.3:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.552T>C
  hgvsp: ENST00000403744.3:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro184Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

22-43284707-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284707
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284707
    reference: chr 22
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.551C>G
  hgvsp: ENSP00000385952.1:p.Pro184Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.551C>G
  hgvsp: ENSP00000385040.1:p.Pro184Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.551C>G
  hgvsp: ENSP00000263246.3:p.Pro184Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.551C>G
  hgvsp: ENSP00000385372.3:p.Pro184Arg
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.551C>G
  hgvsp: ENSP00000338379.4:p.Pro184Arg
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro184Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

22-43284718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43284718
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 43284718
    reference: chr 22
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385040
  ensembl transcript: ENST00000402229
  gene symbol: PACSIN2
  hgvsc: ENST00000402229.1:c.540A>G
  hgvsp: ENST00000402229.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000263246
  ensembl transcript: ENST00000263246
  gene symbol: PACSIN2
  hgvsc: ENST00000263246.3:c.540A>G
  hgvsp: ENST00000263246.3:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385372
  ensembl transcript: ENST00000403744
  gene symbol: PACSIN2
  hgvsc: ENST00000403744.3:c.540A>G
  hgvsp: ENST00000403744.3:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000385952
  ensembl transcript: ENST00000407585
  gene symbol: PACSIN2
  hgvsc: ENST00000407585.1:c.540A>G
  hgvsp: ENST00000407585.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100266
  ensembl protein: ENSP00000338379
  ensembl transcript: ENST00000337959
  gene symbol: PACSIN2
  hgvsc: ENST00000337959.4:c.540A>G
  hgvsp: ENST00000337959.4:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8571
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38287
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro180Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
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: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: -3.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.7787e1

DP
type: SiteQuality
SIO_000300: 2.214935e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.535e0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18343
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 639
allele frequency: 4.070582239775768e-2
allele num: 15698
num of homozygotes: 12

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

African
type: Population
allele count: 1
allele frequency: 1.00928542591845e-4
allele num: 9908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.23923e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.086e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
all individuals: 14662
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.086e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 2.23923e6

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14108
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 2.216923e6

FS
type: SiteQuality
SIO_000300: 2.713e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7526
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019925954910755e-5
allele num: 66446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.217953e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 19050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14106
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053487042109382e-4
allele num: 66446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.23e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 2.217953e6

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
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variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5292
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.04083685375176e-4
allele num: 9942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.776049766718507e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 189
allele frequency: 2.842618216821081e-3
allele num: 66488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.860580501116348e-4
allele num: 16124
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.169e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 2.233026e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

DP
type: SiteQuality
SIO_000300: 2.215089e6

FS
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.218537e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 2.218766e6

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 3371
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 9.42e0

DP
type: SiteQuality
SIO_000300: 2.221602e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.996e0

FS
type: SiteQuality
SIO_000300: 2.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2159
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GenotypeQuality
all individuals: 3368
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
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GenotypeQuality
all individuals: 4603
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
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: 1.499880009599232e-5
allele num: 66672
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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

QD
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SIO_000300: 1.091e1

InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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FS
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.107e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.454e0

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.222603e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

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

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

Latino
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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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

South Asian
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allele count: 23
allele frequency: 1.39326387206203e-3
allele num: 16508
num of homozygotes: 0

QD
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.224863e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

VQSLOD
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 906
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: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

DP
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498756032493031e-4
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.225469e6

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

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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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.467000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e-2

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

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.2246e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

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: 66724
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Finnish)
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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
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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African
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allele frequency: 1.948937828883259e-4
allele num: 10262
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
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QD
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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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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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.224674e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 4.915e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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

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: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

DP
type: SiteQuality
SIO_000300: 2.224886e6

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 1.794e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16512
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 33
allele frequency: 4.945598417408506e-4
allele num: 66726
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
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
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Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.397722163944253e-4
allele num: 66730
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.939487975174554e-4
allele num: 10312
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

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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variant carriers: 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: 10336
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.464e0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 2.223418e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.55e1

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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variant carriers: 0

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

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

East Asian
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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: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.223325e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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African
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allele num: 10360
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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European (Finnish)
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allele count: 0
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66716
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South Asian
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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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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East Asian
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num of homozygotes: 0

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

Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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African
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allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 2.222468e6

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20118
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2158
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
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: 0
allele frequency: 0.0e0
allele num: 66712
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: 908
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.222519e6

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5321
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 10342
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 4.1e0

DP
type: SiteQuality
SIO_000300: 2.222519e6

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

FS
type: SiteQuality
SIO_000300: 2.019e0

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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: 10316
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.22184e6

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeQuality
all individuals: 2157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13871
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: -2.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

FS
type: SiteQuality
SIO_000300: 1.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.816e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.221229e6

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 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: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
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: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
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: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 4.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.219928e6

QD
type: SiteQuality
SIO_000300: 1.374e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.189e0

VQSLOD
type: SiteQuality
SIO_000300: -2.279e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.081e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13867
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349770539008369e-4
allele num: 66678
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.954270080125073e-4
allele num: 10234
num of homozygotes: 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: 16482
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 2.22028e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.619999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

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

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19871
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 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: 16470
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: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.893e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 2.218784e6

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

GenotypeQuality
all individuals: 3494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.572e0

DP
type: SiteQuality
SIO_000300: 2.218772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.158e1

FS
type: SiteQuality
SIO_000300: 1.944e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.216932e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.057e0

MQ
type: SiteQuality
SIO_000300: 5.847e1

DP
type: SiteQuality
SIO_000300: 2.211719e6

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

DP
type: SiteQuality
SIO_000300: 2.206297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 18495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.143e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.75e-1

DP
type: SiteQuality
SIO_000300: 2.199493e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.461e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 3312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13848
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.196664e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 2.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.501e1

GenotypeQuality
all individuals: 13844
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 2.186933e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.435e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.85e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 2.163358e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

GenotypeQuality
all individuals: 4520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 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: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.109905e6

QD
type: SiteQuality
SIO_000300: 1.332e1

FS
type: SiteQuality
SIO_000300: 2.476e0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

GenotypeQuality
all individuals: 2117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
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variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52401853206535e-5
allele num: 65616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.582e0

DP
type: SiteQuality
SIO_000300: 2.084804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 4496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
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: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.009e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.582e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 2.084804e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

GenotypeQuality
all individuals: 13813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.582e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 2.084804e6

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
all individuals: 13813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 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: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52587890625e-5
allele num: 65536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.051e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 2.076785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.058e0

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 1826
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13804
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.929e0

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 2.066739e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3004
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38167
bin: 9.75e1
variant carriers: 8

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202031433121976e-4
allele num: 66554
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 2.824208e6

FS
type: SiteQuality
SIO_000300: 1.722e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
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: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.132711885195633e-5
allele num: 16306
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 2.82733e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.561e0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
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: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
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: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.830048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

FS
type: SiteQuality
SIO_000300: 8.42e-1

QD
type: SiteQuality
SIO_000300: 2.231e1

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
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: 896
num of homozygotes: 0

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

Latino
type: Population
allele count: 21
allele frequency: 1.816294758692268e-3
allele num: 11562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.344e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 2.836721e6

FS
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
all individuals: 38233
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

FS
type: SiteQuality
SIO_000300: 4.732e0

DP
type: SiteQuality
SIO_000300: 2.840222e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38245
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.046922608165753e-4
allele num: 16410
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: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 2.842037e6

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 7.25e1
variant carriers: 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: 11562
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

DP
type: SiteQuality
SIO_000300: 2.843031e6

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 6.332e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.005223029357028e-5
allele num: 66628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.511944360447536e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 1.697e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 2.844923e6

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

GenotypeQuality
all individuals: 2854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 3127
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 2.849121e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

FS
type: SiteQuality
SIO_000300: 1.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.383e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38275
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
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: 4
allele frequency: 5.999160117583539e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.697e0

DP
type: SiteQuality
SIO_000300: 2.849465e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 3129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 3340
bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 2.850592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 3340
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997120921305183e-5
allele num: 66688
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 6.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 2.850592e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 2.851286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.99e-1

FS
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 2.851432e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

GenotypeQuality
all individuals: 2779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 1

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: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 4.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 2.852223e6

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 8626
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

FS
type: SiteQuality
SIO_000300: 3.187e0

MQRankSum
type: SiteQuality
SIO_000300: -1.063e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -3.072e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 2.852045e6

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3343
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 2.033e0

QD
type: SiteQuality
SIO_000300: 1.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.852236e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 2.927e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.574e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.852279e6